Available Modules

Modules are the building stones of all DSL2 nf-core blocks. You can find more info from nf-core website, if you would like to write your own module.

  • bam 38
  • cram 23
  • fasta 21
  • sam 17
  • sentieon 17
  • fastq 15
  • map 11
  • reference 10
  • vcf 9
  • genomics 8
  • metagenomics 8
  • genome 8
  • copy number 8
  • index 7
  • classification 7
  • align 6
  • cnvkit 6
  • short-read 6
  • taxonomy 5
  • bwa 5
  • assembly 4
  • merge 4
  • coverage 4
  • k-mer 4
  • profiling 4
  • ganon 4
  • hybrid capture sequencing 4
  • copy number alteration calling 4
  • DNA sequencing 4
  • targeted sequencing 4
  • alignment 3
  • sort 3
  • filter 3
  • quality control 3
  • cnv 3
  • build 3
  • stats 3
  • mapping 3
  • samtools 3
  • db 3
  • kraken2 3
  • counts 3
  • indels 3
  • view 3
  • snps 3
  • aln 3
  • variant_calling 3
  • annotation 2
  • structural variants 2
  • nanopore 2
  • variant 2
  • binning 2
  • gvcf 2
  • illumina 2
  • metrics 2
  • depth 2
  • transcriptome 2
  • aligner 2
  • report 2
  • mem 2
  • de novo assembly 2
  • riboseq 2
  • normalization 2
  • chromosome 2
  • STR 2
  • proteome 2
  • hla 2
  • hlala 2
  • hla_typing 2
  • hlala_typing 2
  • tnhaplotyper2 2
  • small variants 2
  • multiallelic 2
  • orf 2
  • varcal 2
  • fixmate 2
  • short reads 2
  • expansionhunterdenovo 2
  • cvnkit 2
  • bed 1
  • gatk4 1
  • database 1
  • gff 1
  • statistics 1
  • qc 1
  • gtf 1
  • download 1
  • classify 1
  • convert 1
  • long reads 1
  • trimming 1
  • contigs 1
  • mags 1
  • sv 1
  • wgs 1
  • QC 1
  • bqsr 1
  • table 1
  • consensus 1
  • phage 1
  • DNA methylation 1
  • markduplicates 1
  • base quality score recalibration 1
  • repeat 1
  • scWGBS 1
  • WGBS 1
  • haplotype 1
  • filtering 1
  • bisulfite sequencing 1
  • archaeogenomics 1
  • genotype 1
  • damage 1
  • palaeogenomics 1
  • virus 1
  • sequence 1
  • biscuit 1
  • peaks 1
  • dedup 1
  • sketch 1
  • pangenome 1
  • profile 1
  • deamination 1
  • cat 1
  • concatenate 1
  • ont 1
  • mpileup 1
  • clipping 1
  • query 1
  • add 1
  • retrotransposon 1
  • miscoding lesions 1
  • palaeogenetics 1
  • archaeogenetics 1
  • haplotypecaller 1
  • SV 1
  • mlst 1
  • polishing 1
  • mapper 1
  • typing 1
  • RNA 1
  • rna_structure 1
  • combine 1
  • quality trimming 1
  • adapter trimming 1
  • pileup 1
  • long terminal retrotransposon 1
  • leviosam2 1
  • lift 1
  • import 1
  • contig 1
  • ancient dna 1
  • scaffold 1
  • dict 1
  • collate 1
  • joint genotyping 1
  • reheader 1
  • tnfilter 1
  • decomposeblocksub 1
  • decompose 1
  • tnseq 1
  • clumping fastqs 1
  • deduping 1
  • smaller fastqs 1
  • intron 1
  • short 1
  • tnscope 1
  • readwriter 1
  • dnamodelapply 1
  • dnascope 1
  • genome polishing 1
  • assembly polishing 1
  • mapad 1
  • adna 1
  • c to t 1
  • standard 1
  • block substitutions 1
  • cobra 1
  • multi-tool 1
  • collapse 1
  • extension 1
  • cram-size 1
  • size 1
  • realign 1
  • circular 1
  • paired reads merging 1
  • overlap-based merging 1
  • maxbin2 1
  • metagenome-assembled genomes 1
  • short variant discovery 1
  • combinegvcfs 1
  • NextGenMap 1
  • ngm 1
  • gender 1
  • gangstr 1
  • assembler 1
  • de Bruijn 1
  • amplicon 1
  • ampliconclip 1
  • calmd 1
  • faidx 1
  • insert size 1
  • repair 1
  • paired 1
  • read pairs 1
  • readgroup 1
  • applyvarcal 1
  • VQSR 1
  • variant recalibration 1
  • detecting svs 1
  • short-read sequencing 1
  • antitarget 1
  • access 1
  • target 1
  • export 1
  • str 1
  • intervals coverage 1
  • genomic intervals 1
  • normal database 1
  • panel of normals 1
  • variant calling 0
  • bacteria 0
  • variants 0
  • split 0
  • MSA 0
  • contamination 0
  • gfa 0
  • taxonomic profiling 0
  • pacbio 0
  • somatic 0
  • conversion 0
  • proteomics 0
  • count 0
  • clustering 0
  • quality 0
  • ancient DNA 0
  • VCF 0
  • single-cell 0
  • imputation 0
  • rnaseq 0
  • phylogeny 0
  • bedtools 0
  • graph 0
  • kmer 0
  • bisulfite 0
  • bcftools 0
  • reporting 0
  • variation graph 0
  • isoseq 0
  • methylation 0
  • indexing 0
  • visualisation 0
  • databases 0
  • bisulphite 0
  • methylseq 0
  • picard 0
  • compression 0
  • protein 0
  • long-read 0
  • cna 0
  • tsv 0
  • taxonomic classification 0
  • serotype 0
  • sequences 0
  • imaging 0
  • 5mC 0
  • demultiplex 0
  • openms 0
  • antimicrobial resistance 0
  • protein sequence 0
  • histogram 0
  • searching 0
  • pairs 0
  • bins 0
  • example 0
  • structure 0
  • pangenome graph 0
  • matrix 0
  • aDNA 0
  • plot 0
  • expression 0
  • neural network 0
  • amr 0
  • cluster 0
  • mappability 0
  • LAST 0
  • completeness 0
  • plink2 0
  • low-coverage 0
  • transcript 0
  • machine learning 0
  • bcf 0
  • seqkit 0
  • cooler 0
  • phasing 0
  • gzip 0
  • germline 0
  • iCLIP 0
  • annotate 0
  • validation 0
  • gene 0
  • mmseqs2 0
  • metagenome 0
  • checkm 0
  • decompression 0
  • ncbi 0
  • hmmer 0
  • ucsc 0
  • complexity 0
  • gff3 0
  • feature 0
  • spatial 0
  • newick 0
  • umi 0
  • genotyping 0
  • mag 0
  • segmentation 0
  • evaluation 0
  • msa 0
  • blast 0
  • bismark 0
  • mkref 0
  • glimpse 0
  • population genetics 0
  • hmmsearch 0
  • reads 0
  • json 0
  • demultiplexing 0
  • mitochondria 0
  • plasmid 0
  • snp 0
  • differential 0
  • multiple sequence alignment 0
  • low frequency variant calling 0
  • antimicrobial peptides 0
  • prokaryote 0
  • bedGraph 0
  • deduplication 0
  • kmers 0
  • prediction 0
  • scRNA-seq 0
  • single 0
  • splicing 0
  • vsearch 0
  • extract 0
  • NCBI 0
  • duplicates 0
  • antimicrobial resistance genes 0
  • tumor-only 0
  • mirna 0
  • benchmark 0
  • ptr 0
  • diversity 0
  • distance 0
  • visualization 0
  • isolates 0
  • interval 0
  • amps 0
  • single cell 0
  • tabular 0
  • detection 0
  • fastx 0
  • csv 0
  • de novo 0
  • FASTQ 0
  • text 0
  • mutect2 0
  • kallisto 0
  • arg 0
  • summary 0
  • fragment 0
  • call 0
  • MAF 0
  • sourmash 0
  • svtk 0
  • structural 0
  • coptr 0
  • wxs 0
  • antibiotic resistance 0
  • compare 0
  • idXML 0
  • adapters 0
  • microbiome 0
  • reference-free 0
  • 3-letter genome 0
  • merging 0
  • gridss 0
  • ccs 0
  • family 0
  • bedpe 0
  • malt 0
  • preprocessing 0
  • ngscheckmate 0
  • genome assembler 0
  • matching 0
  • fai 0
  • bigwig 0
  • read depth 0
  • ampir 0
  • fungi 0
  • peak-calling 0
  • CLIP 0
  • dna 0
  • diamond 0
  • circrna 0
  • rna 0
  • microarray 0
  • bin 0
  • ATAC-seq 0
  • microsatellite 0
  • union 0
  • isomir 0
  • compress 0
  • bgzip 0
  • telomere 0
  • skani 0
  • interval_list 0
  • hic 0
  • deep learning 0
  • paf 0
  • redundancy 0
  • cut 0
  • resistance 0
  • pypgx 0
  • HMM 0
  • enrichment 0
  • gsea 0
  • logratio 0
  • happy 0
  • HiFi 0
  • chunk 0
  • biosynthetic gene cluster 0
  • bcl2fastq 0
  • propr 0
  • hmmcopy 0
  • image 0
  • umitools 0
  • parsing 0
  • quantification 0
  • BGC 0
  • public datasets 0
  • clean 0
  • ranking 0
  • phylogenetic placement 0
  • xeniumranger 0
  • genmod 0
  • transcriptomics 0
  • DNA sequence 0
  • mtDNA 0
  • sample 0
  • abundance 0
  • sequencing 0
  • bedgraph 0
  • containment 0
  • ancestry 0
  • fgbio 0
  • fcs-gx 0
  • arriba 0
  • deeparg 0
  • macrel 0
  • amplify 0
  • fastk 0
  • das tool 0
  • spark 0
  • html 0
  • structural_variants 0
  • C to T 0
  • DRAMP 0
  • das_tool 0
  • angsd 0
  • insert 0
  • fam 0
  • bim 0
  • fusion 0
  • SNP 0
  • small indels 0
  • subsample 0
  • pangolin 0
  • panel 0
  • UMI 0
  • pan-genome 0
  • rsem 0
  • pairsam 0
  • duplication 0
  • prokaryotes 0
  • replace 0
  • bacterial 0
  • covid 0
  • benchmarking 0
  • dictionary 0
  • lineage 0
  • indel 0
  • PCA 0
  • fingerprint 0
  • genome mining 0
  • prokka 0
  • regions 0
  • RNA-seq 0
  • genomes 0
  • neubi 0
  • entrez 0
  • eukaryotes 0
  • scores 0
  • seqtk 0
  • mcmicro 0
  • bwameth 0
  • npz 0
  • windowmasker 0
  • amplicon sequences 0
  • hi-c 0
  • bakta 0
  • vrhyme 0
  • nucleotide 0
  • highly_multiplexed_imaging 0
  • mkfastq 0
  • image_analysis 0
  • host 0
  • cellranger 0
  • gene expression 0
  • zip 0
  • unzip 0
  • uncompress 0
  • untar 0
  • mask 0
  • kraken 0
  • microbes 0
  • guide tree 0
  • long_read 0
  • somatic variants 0
  • transposons 0
  • complement 0
  • roh 0
  • transcripts 0
  • organelle 0
  • remove 0
  • converter 0
  • intervals 0
  • genome assembly 0
  • gatk4spark 0
  • mzml 0
  • chimeras 0
  • PacBio 0
  • comparisons 0
  • comparison 0
  • score 0
  • popscle 0
  • genotype-based deconvoltion 0
  • bamtools 0
  • bracken 0
  • hidden Markov model 0
  • archiving 0
  • minimap2 0
  • sylph 0
  • amplicon sequencing 0
  • notebook 0
  • reports 0
  • ataqv 0
  • checkv 0
  • informative sites 0
  • kinship 0
  • identity 0
  • relatedness 0
  • repeat expansion 0
  • virulence 0
  • cut up 0
  • krona chart 0
  • survivor 0
  • miRNA 0
  • cool 0
  • pseudoalignment 0
  • dist 0
  • dump 0
  • lossless 0
  • observations 0
  • shapeit 0
  • khmer 0
  • CRISPR 0
  • krona 0
  • prefetch 0
  • spaceranger 0
  • wastewater 0
  • wig 0
  • atac-seq 0
  • tabix 0
  • ambient RNA removal 0
  • chip-seq 0
  • ligate 0
  • population genomics 0
  • cfDNA 0
  • uLTRA 0
  • png 0
  • gstama 0
  • profiles 0
  • ichorcna 0
  • mash 0
  • tama 0
  • pigz 0
  • bustools 0
  • refine 0
  • resolve_bioscience 0
  • gene set 0
  • trancriptome 0
  • gene set analysis 0
  • spatial_transcriptomics 0
  • lofreq 0
  • screen 0
  • krakentools 0
  • phase 0
  • haplotypes 0
  • split_kmers 0
  • interactive 0
  • reformat 0
  • serogroup 0
  • minhash 0
  • GC content 0
  • maximum likelihood 0
  • megan 0
  • polyA_tail 0
  • primer 0
  • k-mer frequency 0
  • barcode 0
  • iphop 0
  • checksum 0
  • corrupted 0
  • tree 0
  • nanostring 0
  • mapcounter 0
  • nacho 0
  • haplogroups 0
  • mRNA 0
  • find 0
  • krakenuniq 0
  • instrain 0
  • pair 0
  • long terminal repeat 0
  • trgt 0
  • cgMLST 0
  • regression 0
  • taxids 0
  • SimpleAF 0
  • taxon name 0
  • zlib 0
  • differential expression 0
  • variation 0
  • vg 0
  • vcflib 0
  • ampgram 0
  • amptransformer 0
  • orthologs 0
  • WGS 0
  • image_processing 0
  • dereplicate 0
  • taxon tables 0
  • otu tables 0
  • standardisation 0
  • standardise 0
  • standardization 0
  • repeats 0
  • svdb 0
  • ome-tif 0
  • de novo assembler 0
  • small genome 0
  • MCMICRO 0
  • signature 0
  • FracMinHash sketch 0
  • interactions 0
  • functional analysis 0
  • join 0
  • reformatting 0
  • function 0
  • pharokka 0
  • bloom filter 0
  • k-mer index 0
  • COBS 0
  • archive 0
  • xz 0
  • mudskipper 0
  • transcriptomic 0
  • kma 0
  • parallelized 0
  • orthology 0
  • rrna 0
  • genetics 0
  • salmon 0
  • rgfa 0
  • nucleotides 0
  • cnvnator 0
  • proportionality 0
  • mitochondrion 0
  • metamaps 0
  • registration 0
  • mirdeep2 0
  • cancer genomics 0
  • homoploymer 0
  • ped 0
  • Duplication purging 0
  • purge duplications 0
  • library 0
  • preseq 0
  • adapter 0
  • doublets 0
  • variant pruning 0
  • anndata 0
  • bfiles 0
  • subset 0
  • gene labels 0
  • read-group 0
  • hostile 0
  • duplicate 0
  • decontamination 0
  • GPU-accelerated 0
  • graph layout 0
  • human removal 0
  • screening 0
  • nextclade 0
  • removal 0
  • msisensor-pro 0
  • cleaning 0
  • micro-satellite-scan 0
  • tumor 0
  • msi 0
  • instability 0
  • MSI 0
  • Read depth 0
  • RNA sequencing 0
  • soft-clipped clusters 0
  • snpsift 0
  • snpeff 0
  • effect prediction 0
  • shigella 0
  • switch 0
  • Streptococcus pneumoniae 0
  • sequenzautils 0
  • transformation 0
  • rename 0
  • salmonella 0
  • smrnaseq 0
  • fusions 0
  • Pharmacogenetics 0
  • retrotransposons 0
  • bam2fq 0
  • frame-shift correction 0
  • long-read sequencing 0
  • scaffolding 0
  • rtgtools 0
  • sequence analysis 0
  • junctions 0
  • pharmacogenetics 0
  • runs_of_homozygosity 0
  • polish 0
  • taxonomic profile 0
  • assembly evaluation 0
  • concordance 0
  • duplex 0
  • deconvolution 0
  • bayesian 0
  • merge mate pairs 0
  • reads merging 0
  • xenograft 0
  • graft 0
  • unaligned 0
  • fetch 0
  • realignment 0
  • GEO 0
  • trim 0
  • metagenomic 0
  • identifier 0
  • microscopy 0
  • repeat_expansions 0
  • metadata 0
  • tab 0
  • microbial 0
  • allele-specific 0
  • emboss 0
  • panelofnormals 0
  • MaltExtract 0
  • HOPS 0
  • authentication 0
  • gatk 0
  • edit distance 0
  • secondary metabolites 0
  • NRPS 0
  • RiPP 0
  • interval list 0
  • evidence 0
  • antibiotics 0
  • antismash 0
  • filtermutectcalls 0
  • RNA-Seq 0
  • simulate 0
  • artic 0
  • aggregate 0
  • demultiplexed reads 0
  • concat 0
  • tbi 0
  • gwas 0
  • CNV 0
  • sra-tools 0
  • settings 0
  • BAM 0
  • blastn 0
  • version 0
  • correction 0
  • calling 0
  • cnv calling 0
  • immunoprofiling 0
  • structural-variant calling 0
  • estimation 0
  • vdj 0
  • single cells 0
  • genome bins 0
  • recombination 0
  • eCLIP 0
  • splice 0
  • parse 0
  • fasterq-dump 0
  • awk 0
  • intersect 0
  • intersection 0
  • normalize 0
  • norm 0
  • scatter 0
  • eigenstrat 0
  • validate 0
  • samplesheet 0
  • format 0
  • eido 0
  • windows 0
  • metagenomes 0
  • blastp 0
  • deseq2 0
  • rna-seq 0
  • region 0
  • heatmap 0
  • sizes 0
  • bases 0
  • spatial_omics 0
  • random forest 0
  • allele 0
  • UMIs 0
  • gem 0
  • ChIP-seq 0
  • baf 0
  • genomad 0
  • getfasta 0
  • derived alleles 0
  • covariance model 0
  • dereplication 0
  • microbial genomics 0
  • jaccard 0
  • overlap 0
  • array_cgh 0
  • cytosure 0
  • ancestral alleles 0
  • gprofiler2 0
  • gost 0
  • genomecov 0
  • closest 0
  • rad 0
  • bamtobed 0
  • sorting 0
  • structural variant 0
  • bam2fastx 0
  • bam2fastq 0
  • immcantation 0
  • airrseq 0
  • vector 0
  • site frequency spectrum 0
  • immunoinformatics 0
  • f coefficient 0
  • bioawk 0
  • unionBedGraphs 0
  • reverse complement 0
  • simulation 0
  • hmmfetch 0
  • pca 0
  • pruning 0
  • subtract 0
  • linkage equilibrium 0
  • slopBed 0
  • transmembrane 0
  • genome graph 0
  • chunking 0
  • homozygous genotypes 0
  • decoy 0
  • heterozygous genotypes 0
  • htseq 0
  • inbreeding 0
  • shiftBed 0
  • multinterval 0
  • sompy 0
  • overlapped bed 0
  • maskfasta 0
  • peak picking 0
  • drep 0
  • homology 0
  • co-orthology 0
  • plastid 0
  • resfinder 0
  • resistance genes 0
  • raw 0
  • mgf 0
  • parquet 0
  • parser 0
  • dbsnp 0
  • standardize 0
  • quarto 0
  • masking 0
  • python 0
  • r 0
  • low-complexity 0
  • coexpression 0
  • correlation 0
  • corpcor 0
  • GFF/GTF 0
  • assay 0
  • trio binning 0
  • tandem repeats 0
  • phylogenetics 0
  • minimum_evolution 0
  • parallel 0
  • csi 0
  • Read coverage histogram 0
  • biallelic 0
  • sequence similarity 0
  • spectral clustering 0
  • agat 0
  • longest 0
  • comparative genomics 0
  • isoform 0
  • autozygosity 0
  • homozygosity 0
  • deep variant 0
  • variancepartition 0
  • mutect 0
  • idx 0
  • update header 0
  • dream 0
  • md 0
  • transform 0
  • gaps 0
  • introns 0
  • nm 0
  • uq 0
  • install 0
  • joint-genotyping 0
  • genotypegvcf 0
  • BCF 0
  • file manipulation 0
  • plink2_pca 0
  • propd 0
  • verifybamid 0
  • vcf2db 0
  • gemini 0
  • melon 0
  • maf 0
  • lua 0
  • toml 0
  • plant 0
  • vcfbreakmulti 0
  • uniq 0
  • deduplicate 0
  • SINE 0
  • VCFtools 0
  • network 0
  • downsample bam 0
  • DNA contamination estimation 0
  • wget 0
  • mkvdjref 0
  • construct 0
  • graph projection to vcf 0
  • cellpose 0
  • hifi 0
  • extractunbinned 0
  • linkbins 0
  • Assembly 0
  • sintax 0
  • vsearch/sort 0
  • subsample bam 0
  • downsample 0
  • usearch 0
  • unmarkduplicates 0
  • bedtobigbed 0
  • genepred 0
  • refflat 0
  • gtftogenepred 0
  • ucsc/liftover 0
  • chromap 0
  • mobile genetic elements 0
  • genome annotation 0
  • trna 0
  • covariance models 0
  • quality assurnce 0
  • qa 0
  • umicollapse 0
  • snv 0
  • scanner 0
  • scRNA-Seq 0
  • crispr 0
  • antibody capture 0
  • files 0
  • antigen capture 0
  • helitron 0
  • multiomics 0
  • remove samples 0
  • upd 0
  • uniparental 0
  • disomy 0
  • domains 0
  • long read alignment 0
  • nucleotide sequence 0
  • copyratios 0
  • comp 0
  • denoisereadcounts 0
  • tblastn 0
  • bedcov 0
  • groupby 0
  • genotype dosages 0
  • vcf file 0
  • postprocessing 0
  • bgen 0
  • subtyping 0
  • chloroplast 0
  • confidence 0
  • blat 0
  • alr 0
  • clr 0
  • Salmonella enterica 0
  • boxcox 0
  • sorted 0
  • bgen file 0
  • Escherichia coli 0
  • createreadcountpanelofnormals 0
  • workflow_mode 0
  • pangenome-scale 0
  • yahs 0
  • all versus all 0
  • mashmap 0
  • wavefront 0
  • whamg 0
  • wham 0
  • compartments 0
  • copy-number 0
  • copy number analysis 0
  • gender determination 0
  • topology 0
  • copy number alterations 0
  • copy number variation 0
  • geo 0
  • workflow 0
  • cumulative coverage 0
  • proteus 0
  • readproteingroups 0
  • calder2 0
  • eigenvectors 0
  • hicPCA 0
  • sliding 0
  • cadd 0
  • snakemake 0
  • distance-based 0
  • long read 0
  • homologs 0
  • telseq 0
  • admixture 0
  • taxonomic composition 0
  • mzML 0
  • microRNA 0
  • prepare 0
  • catpack 0
  • multiqc 0
  • mass_error 0
  • search engine 0
  • poolseq 0
  • variant-calling 0
  • stardist 0
  • vsearch/dereplicate 0
  • Staging 0
  • vsearch/fastqfilter 0
  • fastqfilter 0
  • ATACseq 0
  • shift 0
  • ATACshift 0
  • http(s) 0
  • utility 0
  • setgt 0
  • jvarkit 0
  • translate 0
  • tar 0
  • tarball 0
  • adapterremoval 0
  • CRISPRi 0
  • HLA 0
  • tag2tag 0
  • nanoq 0
  • Read filters 0
  • Read trimming 0
  • Read report 0
  • hhsuite 0
  • drug categorization 0
  • ATLAS 0
  • uniques 0
  • Illumina 0
  • functional 0
  • impute-info 0
  • tags 0
  • sequencing_bias 0
  • mkarv 0
  • hashing-based deconvolution 0
  • rank 0
  • 16S 0
  • java 0
  • script 0
  • post mortem damage 0
  • xml 0
  • svg 0
  • haplotag 0
  • atlas 0
  • staging 0
  • targz 0
  • Computational Immunology 0
  • bias 0
  • scanpy 0
  • nuclear contamination estimate 0
  • resegment 0
  • morphology 0
  • fix 0
  • post Post-processing 0
  • malformed 0
  • partitioning 0
  • chip 0
  • updatedata 0
  • metagenome assembler 0
  • run 0
  • model 0
  • AMPs 0
  • allele counts 0
  • antimicrobial peptide prediction 0
  • plotting 0
  • regtools 0
  • leafcutter 0
  • amp 0
  • pdb 0
  • recovery 0
  • mgi 0
  • Staphylococcus aureus 0
  • affy 0
  • reference panels 0
  • relabel 0
  • cell segmentation 0
  • Bioinformatics Tools 0
  • quality_control 0
  • bclconvert 0
  • nucBed 0
  • AT content 0
  • Immune Deconvolution 0
  • nucleotide content 0
  • elfasta 0
  • elprep 0
  • doublet 0
  • patterns 0
  • controlstatistics 0
  • source tracking 0
  • emoji 0
  • regex 0
  • nuclear segmentation 0
  • paired reads re-pairing 0
  • installation 0
  • doublet_detection 0
  • barcodes 0
  • doCounts 0
  • subsetting 0
  • logFC 0
  • significance statistic 0
  • p-value 0
  • scvi 0
  • solo 0
  • import segmentation 0
  • redundant 0
  • hmmpress 0
  • identity-by-descent 0
  • go 0
  • scimap 0
  • Bayesian 0
  • host removal 0
  • structural-variants 0
  • omics 0
  • biological activity 0
  • bamtools/split 0
  • prior knowledge 0
  • tag 0
  • cell_barcodes 0
  • haploype 0
  • mygene 0
  • yaml 0
  • associations 0
  • impute 0
  • bedgraphtobigwig 0
  • bamtools/convert 0
  • reference compression 0
  • pile up 0
  • mouse 0
  • reference panel 0
  • bacphlip 0
  • virulent 0
  • nanopore sequencing 0
  • rna velocity 0
  • spatial_neighborhoods 0
  • Indel 0
  • grea 0
  • seqfu 0
  • predict 0
  • background_correction 0
  • illumiation_correction 0
  • hardy-weinberg 0
  • hwe statistics 0
  • hwe equilibrium 0
  • reference-independent 0
  • genotype likelihood 0
  • liftover 0
  • probabilistic realignment 0
  • n50 0
  • case/control 0
  • cell_type_identification 0
  • cell_phenotyping 0
  • machine_learning 0
  • element 0
  • trimBam 0
  • bamUtil 0
  • shuffleBed 0
  • SNV 0
  • clahe 0
  • refresh 0
  • association 0
  • GWAS 0
  • temperate 0
  • read group 0
  • bwamem2 0
  • bwameme 0
  • grabix 0
  • ribosomal 0
  • 10x 0
  • background 0
  • single-stranded 0
  • regulatory network 0
  • ancientDNA 0
  • transcription factors 0
  • paraphase 0
  • selector 0
  • Pacbio 0
  • quality check 0
  • phylogenies 0
  • hmmscan 0
  • spot 0
  • orthogroup 0
  • authentict 0
  • sage 0
  • mass spectrometry 0
  • featuretable 0
  • extraction 0
  • guidetree 0
  • AC/NS/AF 0
  • functional enrichment 0
  • autofluorescence 0
  • translation 0
  • check 0
  • lifestyle 0
  • hamming-distance 0
  • hashing-based deconvoltion 0
  • gnu 0
  • coreutils 0
  • generic 0
  • transposable element 0
  • retrieval 0
  • cycif 0
  • vcflib/vcffixup 0
  • contiguate 0
  • junction 0
  • MMseqs2 0
  • InterProScan 0
  • busco 0
  • droplet based single cells 0
  • antimicrobial reistance 0
  • lexogen 0
  • genotype-based demultiplexing 0
  • donor deconvolution 0
  • cellsnp 0
  • trimfq 0
  • bigbed 0
  • cmseq 0
  • duplicate removal 0
  • bedtointervallist 0
  • mash/sketch 0
  • calibratedragstrmodel 0
  • reduced 0
  • representations 0
  • getpileupsummaries 0
  • cross-samplecontamination 0
  • mass-spectroscopy 0
  • calculatecontamination 0
  • mcr-1 0
  • MD5 0
  • 128 bit 0
  • megahit 0
  • taxonomic assignment 0
  • denovo 0
  • debruijn 0
  • asereadcounter 0
  • daa 0
  • rma6 0
  • Neisseria meningitidis 0
  • vqsr 0
  • variant quality score recalibration 0
  • 3D heat map 0
  • contour map 0
  • Merqury 0
  • annotateintervals 0
  • targets 0
  • cnnscorevariants 0
  • collectreadcounts 0
  • ploidy 0
  • AMP 0
  • collapsing 0
  • determinegermlinecontigploidy 0
  • legionella 0
  • clinical 0
  • pneumophila 0
  • createsomaticpanelofnormals 0
  • limma 0
  • Listeria monocytogenes 0
  • createsequencedictionary 0
  • condensedepthevidence 0
  • lofreq/call 0
  • lofreq/filter 0
  • qualities 0
  • peptide prediction 0
  • estimate 0
  • dragstr 0
  • functional genomics 0
  • sgRNA 0
  • CRISPR-Cas9 0
  • maximum-likelihood 0
  • rra 0
  • composestrtablefile 0
  • DNA damage 0
  • NGS 0
  • damage patterns 0
  • collectsvevidence 0
  • smudgeplot 0
  • unionsum 0
  • train 0
  • graph drawing 0
  • SNP table 0
  • contaminant 0
  • single molecule 0
  • cancer genome 0
  • somatic structural variations 0
  • mobile element insertions 0
  • sequencing summary 0
  • Neisseria gonorrhoeae 0
  • zipperbams 0
  • graph construction 0
  • ubam 0
  • Beautiful stand-alone HTML report 0
  • squeeze 0
  • odgi 0
  • combine graphs 0
  • graph stats 0
  • graph unchopping 0
  • graph formats 0
  • graph viz 0
  • tumor/normal 0
  • hla-typing 0
  • ILP 0
  • HLA-I 0
  • block-compressed 0
  • unmapped 0
  • GATK UnifiedGenotyper 0
  • bioinformatics tools 0
  • metaphlan 0
  • bootstrapping 0
  • methylation bias 0
  • mbias 0
  • heattree 0
  • microrna 0
  • gene-calling 0
  • target prediction 0
  • mitochondrial genome 0
  • reference genome 0
  • gamma 0
  • UShER 0
  • mosdepth 0
  • mitochondrial to nuclear ratio 0
  • otu table 0
  • bacterial variant calling 0
  • germline variant calling 0
  • somatic variant calling 0
  • variant caller 0
  • rust 0
  • microsatellite instability 0
  • fq 0
  • lint 0
  • random 0
  • scan 0
  • mtnucratio 0
  • ratio 0
  • generate 0
  • adapter removal 0
  • spliced 0
  • flip 0
  • txt 0
  • abricate 0
  • amrfinderplus 0
  • fARGene 0
  • rgi 0
  • ibd 0
  • hbd 0
  • beagle 0
  • mitochondrial 0
  • genome profile 0
  • bgc 0
  • Haemophilus influenzae 0
  • haplotype resolution 0
  • file parsing 0
  • gawk 0
  • extractvariants 0
  • variantrecalibrator 0
  • recalibration model 0
  • variantfiltration 0
  • svcluster 0
  • svannotate 0
  • gccounter 0
  • splitintervals 0
  • readcounter 0
  • splitcram 0
  • site depth 0
  • HMMER 0
  • amino acid 0
  • shiftintervals 0
  • compound 0
  • extract_variants 0
  • Hidden Markov Model 0
  • gene model 0
  • Haplotypes 0
  • Imputation 0
  • joint-variant-calling 0
  • GNU 0
  • merge compare 0
  • genomes on a tree 0
  • low coverage 0
  • gget 0
  • genome statistics 0
  • genome manipulation 0
  • genome summary 0
  • tama_collapse.py 0
  • gfastats 0
  • TAMA 0
  • gvcftools 0
  • Mykrobe 0
  • gstama/merge 0
  • Salmonella Typhi 0
  • repeat content 0
  • gstama/polyacleanup 0
  • GTDB taxonomy 0
  • genome heterozygosity 0
  • genome taxonomy database 0
  • archaea 0
  • genome size 0
  • gunc 0
  • gunzip 0
  • models 0
  • shiftfasta 0
  • hmtnote 0
  • reorder 0
  • Klebsiella 0
  • readorientationartifacts 0
  • learnreadorientationmodel 0
  • indexfeaturefile 0
  • readcountssummary 0
  • getpileupsumaries 0
  • kallisto/index 0
  • quant 0
  • germlinevariantsites 0
  • germlinecnvcaller 0
  • germline contig ploidy 0
  • digital normalization 0
  • k-mer counting 0
  • effective genome size 0
  • pneumoniae 0
  • jupytext 0
  • panelofnormalscreation 0
  • kegg 0
  • kofamscan 0
  • jointgenotyping 0
  • combining 0
  • genomicsdbimport 0
  • genomicsdb 0
  • gatherbqsrreports 0
  • tranche filtering 0
  • filtervarianttranches 0
  • filterintervals 0
  • estimatelibrarycomplexity 0
  • duplication metrics 0
  • papermill 0
  • Jupyter 0
  • annotations 0
  • pixel_classification 0
  • shiftchain 0
  • pos 0
  • haemophilus 0
  • selectvariants 0
  • revert 0
  • panel_of_normals 0
  • IDR 0
  • igv 0
  • igv.js 0
  • js 0
  • genome browser 0
  • multicut 0
  • pixel classification 0
  • probability_maps 0
  • Python 0
  • reblockgvcf 0
  • printsvevidence 0
  • printreads 0
  • interproscan 0
  • preprocessintervals 0
  • postprocessgermlinecnvcalls 0
  • genomic islands 0
  • insertion 0
  • snvs 0
  • mutectstats 0
  • mergebamalignment 0
  • leftalignandtrimvariants 0
  • jasminesv 0
  • jasmine 0
  • PCR/optical duplicates 0
  • upper-triangular matrix 0
  • sequencing adapters 0
  • custom 0
  • sertotype 0
  • interleave 0
  • header 0
  • seq 0
  • na 0
  • selection 0
  • random draw 0
  • pseudohaploid 0
  • pseudodiploid 0
  • freqsum 0
  • bam2seqz 0
  • gc_wiggle 0
  • induce 0
  • sex determination 0
  • sequence headers 0
  • genetic sex 0
  • relative coverage 0
  • Cores 0
  • Segmentation 0
  • rare variants 0
  • error 0
  • TMA dearray 0
  • de-novo 0
  • longread 0
  • sha256 0
  • 256 bit 0
  • UNet 0
  • shinyngs 0
  • cls 0
  • grep 0
  • boxplot 0
  • scramble 0
  • scatterplot 0
  • corrrelation 0
  • track 0
  • paired-end 0
  • cluster analysis 0
  • subseq 0
  • clusteridentifier 0
  • peak-caller 0
  • cut&tag 0
  • cut&run 0
  • chromatin 0
  • seacr 0
  • pcr duplicates 0
  • assembly-binning 0
  • cutesv 0
  • gct 0
  • exploratory 0
  • density 0
  • sambamba 0
  • rdtest2vcf 0
  • spatype 0
  • spa 0
  • streptococcus 0
  • sccmec 0
  • variantcalling 0
  • Sample 0
  • protein coding genes 0
  • polymorphic sites 0
  • svtk/baftest 0
  • baftest 0
  • countsvtypes 0
  • rdtest 0
  • polymorphic 0
  • vcf2bed 0
  • decompress 0
  • polymut 0
  • polya tail 0
  • fast5 0
  • chromosome_visualization 0
  • Mycobacterium tuberculosis 0
  • chromosomal rearrangements 0
  • eucaryotes 0
  • coding 0
  • cds 0
  • transcroder 0
  • fracminhash sketch 0
  • features 0
  • cload 0
  • mcool 0
  • sliding window 0
  • genomic bins 0
  • makebins 0
  • CRAM 0
  • SMN1 0
  • SMN2 0
  • POA 0
  • sniffles 0
  • core 0
  • snippy 0
  • enzyme 0
  • digest 0
  • cooler/balance 0
  • hash sketch 0
  • subcontigs 0
  • dbnsfp 0
  • predictions 0
  • nucleotide composition 0
  • SNPs 0
  • invariant 0
  • constant 0
  • concoct 0
  • partition histograms 0
  • rRNA 0
  • ribosomal RNA 0
  • signatures 0
  • duplicate marking 0
  • flagstat 0
  • ligation junctions 0
  • genetic 0
  • deletions 0
  • insertions 0
  • tandem duplications 0
  • CoPRO 0
  • GRO-cap 0
  • PRO-cap 0
  • CAGE 0
  • NETCAGE 0
  • RAMPAGE 0
  • csRNA-seq 0
  • STRIPE-seq 0
  • PRO-seq 0
  • GRO-seq 0
  • ARGs 0
  • picard/renamesampleinvcf 0
  • antibiotic resistance genes 0
  • faqcs 0
  • exclude 0
  • variant identifiers 0
  • indep 0
  • indep pairwise 0
  • recode 0
  • whole genome association 0
  • identifiers 0
  • scoring 0
  • cache 0
  • variant genetic 0
  • sortvcf 0
  • pcr 0
  • porechop_abi 0
  • pbp 0
  • pairtools 0
  • pairstools 0
  • restriction fragments 0
  • select 0
  • groupreads 0
  • duplexumi 0
  • consensus sequence 0
  • public 0
  • paragraph 0
  • graphs 0
  • pbbam 0
  • pbmerge 0
  • subreads 0
  • pair-end 0
  • liftovervcf 0
  • read 0
  • pedigrees 0
  • ENA 0
  • motif 0
  • ChIP-Seq 0
  • phantom peaks 0
  • prophage 0
  • identification 0
  • illumina datasets 0
  • phylogenetic composition 0
  • SRA 0
  • ANI 0
  • hybrid-selection 0
  • mate-pair 0
  • pmdtools 0
  • percent on target 0
  • multimapper 0
  • read distribution 0
  • subsampling 0
  • long uncorrected reads 0
  • rhocall 0
  • R 0
  • escherichia coli 0
  • bamstat 0
  • depth information 0
  • strandedness 0
  • experiment 0
  • read_pairs 0
  • fragment_size 0
  • inner_distance 0
  • structural variation 0
  • duphold 0
  • PEP 0
  • sequence-based 0
  • mapping-based 0
  • segment 0
  • integrity 0
  • rtg 0
  • blastx 0
  • pedfilter 0
  • rocplot 0
  • rtg-tools 0
  • salsa 0
  • salsa2 0
  • LCA 0
  • Ancestor 0
  • neighbour-joining 0
  • quast 0
  • endogenous DNA 0
  • circos 0
  • Streptococcus pyogenes 0
  • swissprot 0
  • genbank 0
  • contact 0
  • pretext 0
  • jpg 0
  • bmp 0
  • contact maps 0
  • gene finding 0
  • embl 0
  • split by chromosome 0
  • deletion 0
  • schema 0
  • cutoff 0
  • eklipse 0
  • haplotype purging 0
  • duplicate purging 0
  • false duplications 0
  • assembly curation 0
  • Haplotype purging 0
  • eigenstratdatabasetools 0
  • False duplications 0
  • Assembly curation 0
  • pep 0
  • purging 0
  • integron 0

The script flags the short introns with the attribute . Is is usefull to avoid ERROR when submiting the data to EBI. (Typical EBI error message: ****ERROR: Intron usually expected to be at least 10 nt long. Please check the accuracy)

010

gff versions

agat:

Another Gff Analysis Toolkit (AGAT). Suite of tools to handle gene annotations in any GTF/GFF format.

Align short or PacBio reads to a reference genome using BBMap

010

bam log versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

Adapter and quality trimming of sequencing reads

010

reads log versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

Merging overlapping paired reads into a single read.

010

merged unmerged ihist versions log

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

BBNorm is designed to normalize coverage by down-sampling reads over high-depth areas of a genome, to result in a flat coverage distribution.

01

fastq log versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

Split sequencing reads by mapping them to multiple references simultaneously

0100010

index primary_fastq all_fastq stats log versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

Create 30% Smaller, Faster Gzipped Fastq Files. And remove duplicates

01

reads log versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

Filter out sequences by sequence header name(s)

01000

reads log versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

Creates an index from a fasta file, ready to be used by bbmap.sh in mapping mode.

0

index versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

Calculates per-scaffold or per-base coverage information from an unsorted sam or bam file.

01

covstats hist versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

Compares query sketches to reference sketches hosted on a remote server via the Internet.

01

hits versions

bbmap:

BBMap is a short read aligner, as well as various other bioinformatic tools.

A fast, compact one-liner to produce duplicate-marked, sorted, and indexed BAM files using Biscuit

010101

bam bai versions

biscuit:

A utility for analyzing sodium bisulfite conversion-based DNA methylation/modification data

samblaster:

samblaster is a fast and flexible program for marking duplicates in read-id grouped paired-end SAM files. It can also optionally output discordant read pairs and/or split read mappings to separate SAM files, and/or unmapped/clipped reads to a separate FASTQ file. By default, samblaster reads SAM input from stdin and writes SAM to stdout.

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Benchmarking Universal Single Copy Orthologs

metafastamodelineagebusco_lineages_pathconfig_file

meta batch_summary short_summaries_txt short_summaries_json busco_dir full_table missing_busco_list single_copy_proteins seq_dir translated_proteins versions

Benchmarking Universal Single Copy Orthologs

0100000

batch_summary short_summaries_txt short_summaries_json log full_table missing_busco_list single_copy_proteins seq_dir translated_dir busco_dir downloaded_lineages single_copy_faa single_copy_fna versions

busco:

BUSCO provides measures for quantitative assessment of genome assembly, gene set, and transcriptome completeness based on evolutionarily informed expectations of gene content from near-universal single-copy orthologs selected from OrthoDB.

Find SA coordinates of the input reads for bwa short-read mapping

0101

sai versions

bwa:

BWA is a software package for mapping DNA sequences against a large reference genome, such as the human genome.

Convert paired-end bwa SA coordinate files to SAM format

01201

bam versions

bwa:

BWA is a software package for mapping DNA sequences against a large reference genome, such as the human genome.

Convert bwa SA coordinate file to SAM format

01201

bam versions

bwa:

BWA is a software package for mapping DNA sequences against a large reference genome, such as the human genome.

Realign reads mapped with BWA to elongated reference genome

01010101

bam versions

circularmapper:

A method to improve mappings on circular genomes such as Mitochondria.

Calculate the sequence-accessible coordinates in chromosomes from the given reference genome, output as a BED file.

0101

bed versions

cnvkit:

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

Derive off-target (โ€œantitargetโ€) bins from target regions.

01

bed versions

cnvkit:

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

Copy number variant detection from high-throughput sequencing data

012010101010

bed cnn cnr cns pdf png versions

cnvkit:

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

Given segmented log2 ratio estimates (.cns), derive each segmentโ€™s absolute integer copy number

012

cns versions

cnvkit:

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

Convert copy number ratio tables (.cnr files) or segments (.cns) to another format.

01

output versions

cnvkit:

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

Copy number variant detection from high-throughput sequencing data

012

tsv cnn versions

cnvkit:

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

Compile a coverage reference from the given files (normal samples).

000

cnn versions

cnvkit:

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

Transform bait intervals into targets more suitable for CNVkit.

0101

bed versions

cnvkit:

CNVkit is a Python library and command-line software toolkit to infer and visualize copy number from high-throughput DNA sequencing data. It is designed for use with hybrid capture, including both whole-exome and custom target panels, and short-read sequencing platforms such as Illumina and Ion Torrent.

A tool to raise the quality of viral genomes assembled from short-read metagenomes via resolving and joining of contigs fragmented during de novo assembly.

01010101000

self_circular extended_circular extended_partial extended_failed orphan_end all_cobra_assemblies joining_summary log versions

cobra-meta:

COBRA is a tool to get higher quality viral genomes assembled from metagenomes.

Merge STR profiles into a multi-sample STR profile

010101

merged_profiles versions

expansionhunterdenovo:

ExpansionHunter Denovo (EHdn) is a suite of tools for detecting novel expansions of short tandem repeats (STRs).

Compute genome-wide STR profile

0120101

locus_tsv motif_tsv str_profile versions

expansionhunterdenovo:

ExpansionHunter Denovo (EHdn) is a suite of tools for detecting novel expansions of short tandem repeats (STRs).

Collapses identical sequences in a FASTQ/A file into a single sequence (while maintaining reads counts)

01

fasta versions

fastx:

A collection of command line tools for Short-Reads FASTA/FASTQ files preprocessing

Filtlong filters long reads based on quality measures or short read data.

012

reads log versions

GangSTR is a tool for genome-wide profiling tandem repeats from short reads.

012300

vcf samplestats versions

Build ganon database using custom reference sequences.

01000

db info versions

ganon:

ganon classifies short DNA sequences against large sets of genomic reference sequences efficiently

Classify FASTQ files against ganon database

010

tre report one all unc log versions

ganon:

ganon classifies short DNA sequences against large sets of genomic reference sequences efficiently

Generate a ganon report file from the output of ganon classify

010

tre versions

ganon:

ganon classifies short DNA sequences against large sets of genomic reference sequences efficiently

Generate a multi-sample report file from the output of ganon report runs

01

txt versions

ganon:

ganon classifies short DNA sequences against large sets of genomic reference sequences efficiently

Combine per-sample gVCF files produced by HaplotypeCaller into a multi-sample gVCF file

012000

combined_gvcf versions

gatk4:

Genome Analysis Toolkit (GATK4). Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size.

Tools for population-scale genotyping using pangenome graphs.

01201010

vcf tbi versions

graphtyper:

A graph-based variant caller capable of genotyping population-scale short read data sets while incorporating previously discovered variants.

Tools for population-scale genotyping using pangenome graphs.

01

vcf tbi versions

graphtyper:

A graph-based variant caller capable of genotyping population-scale short read data sets while incorporating previously discovered variants.

Pre-compute the graph index structure.

01

graph versions

hlala:

HLA typing from short and long reads

Performs HLA typing based on a population reference graph and employs a new linear projection method to align reads to the graph.

0123

results extraction extraction_mapped extraction_unmpapped hla fastq reads_per_level remapped versions

hlala:

HLA typing from short and long reads

Create a tag directory with the HOMER suite

010

tagdir taginfo versions

homer:

HOMER (Hypergeometric Optimization of Motif EnRichment) is a suite of tools for Motif Discovery and next-gen sequencing analysis.

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

DESeq2:

Differential gene expression analysis based on the negative binomial distribution

edgeR:

Empirical Analysis of Digital Gene Expression Data in R

Assembly polisher using short (and long) reads

0101000

fasta versions

Adds fasta files to a Kraken2 taxonomic database

010000

db versions

kraken2:

Kraken2 is a system for assigning taxonomic labels to short DNA sequences, usually obtained through metagenomic studies.

Builds Kraken2 database

010

db versions

kraken2:

Kraken2 is a system for assigning taxonomic labels to short DNA sequences, usually obtained through metagenomic studies.

Downloads and builds Kraken2 standard database

0

db versions

kraken2:

Kraken2 is a system for assigning taxonomic labels to short DNA sequences, usually obtained through metagenomic studies.

Converting aligned short and long reads records from one reference to another

0101

bam versions

leviosam2:

Fast and accurate coordinate conversion between assemblies

Estimates the mean LTR sequence identity in the genome. The input genome fasta should have short alphanumeric IDs without comments

01000

log lai_out versions

lai:

Assessing genome assembly quality using the LTR Assembly Index (LAI)

Create mapAD index for reference genome

01

index versions

mapad:

An aDNA aware short-read mapper

Map short-reads to an indexed reference genome

01010000000

bam versions

mapad:

An aDNA aware short-read mapper

MaxBin is a software that is capable of clustering metagenomic contigs

0123

binned_fastas summary abundance log marker_counts unbinned_fasta tooshort_fasta marker_bins marker_genes versions

Metagenome binning of contigs

012

tooshort lowdepth unbinned membership fasta versions

metabat2:

Metagenome binning

Minia is a short-read assembler based on a de Bruijn graph

01

contigs unitigs h5 versions

Performs fastq alignment to a fasta reference using NextGenMap

010

bam versions

bwa:

NextGenMap is a flexible highly sensitive short read mapping tool that handles much higher mismatch rates than comparable algorithms while still outperforming them in terms of runtime

Determines the gender of a sample from the BAM/CRAM file.

01201010

tsv versions

ngsbits:

Short-read sequencing tools

Polishing genome assemblies with short reads.

01010

fasta versions debug

polypolish:

Polishing genome assemblies with short reads.

Calculate intervals coverage for each sample. N.B. the tool can not handle staging files with symlinks, stageInMode should be set to 'link'.

0120

txt png loess_qc_txt loess_txt versions

purecn:

Copy number calling and SNV classification using targeted short read sequencing

Generate on and off-target intervals for PureCN from a list of targets

01010

txt bed versions

purecn:

Copy number calling and SNV classification using targeted short read sequencing

Build a normal database for coverage normalization from all the (GC-normalized) normal coverage files. N.B. as reported in https://www.bioconductor.org/packages/devel/bioc/vignettes/PureCN/inst/doc/Quick.html, it is advised to provide a normal panel (VCF format) to precompute mapping bias for faster runtimes.

012300

rds png bias_rds bias_bed low_cov_bed versions

purecn:

Copy number calling and SNV classification using targeted short read sequencing

Run PureCN workflow to normalize, segment and determine purity and ploidy

01200

pdf local_optima_pdf seg genes_csv amplification_pvalues_csv vcf_gz variants_csv loh_csv chr_pdf segmentation_pdf multisample_seg versions

purecn:

Copy number calling and SNV classification using targeted short read sequencing

Accurate detection of short and long active ORFs using Ribo-seq data

01201

protocol bam_summary read_length_dist metagene_profile_5p metagene_profile_3p metagene_plots psite_offsets pos_wig neg_wig orfs versions

ribotricer:

Python package to detect translating ORF from Ribo-seq data

Accurate detection of short and long active ORFs using Ribo-seq data

012

candidate_orfs versions

ribotricer:

Python package to detect translating ORF from Ribo-seq data

Clips read alignments where they match BED file defined regions

01000

bam stats rejects_bam versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

calculates MD and NM tags

0101

bam versions

samtoolscalmd:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Concatenate BAM or CRAM file

01

bam cram versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Produces a consensus FASTA/FASTQ/PILEUP

01

fasta fastq pileup versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

convert and then index CRAM -> BAM or BAM -> CRAM file

0120101

bam cram bai crai versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

produces a histogram or table of coverage per chromosome

0120101

coverage versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

List CRAM Content-ID and Data-Series sizes

01

size versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Create a sequence dictionary file from a FASTA file

01

dict versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Index FASTA file, and optionally generate a file of chromosome sizes

01010

fa fai sizes gzi versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Converts a SAM/BAM/CRAM file to FASTQ

010

fastq interleaved singleton other versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Samtools fixmate is a tool that can fill in information (insert size, cigar, mapq) about paired end reads onto the corresponding other read. Also has options to remove secondary/unmapped alignments and recalculate whether reads are proper pairs.

01

bam cram sam versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Counts the number of alignments in a BAM/CRAM/SAM file for each FLAG type

012

flagstat versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

filter/convert SAM/BAM/CRAM file

01

readgroup versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Reports alignment summary statistics for a BAM/CRAM/SAM file

012

idxstats versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

converts FASTQ files to unmapped SAM/BAM/CRAM

01

sam bam cram versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Index SAM/BAM/CRAM file

01

bai csi crai versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Merge BAM or CRAM file

010101

bam cram csi crai versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

BAM

0120

mpileup versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Replace the header in the bam file with the header generated by the command. This command is much faster than replacing the header with a BAMโ†’SAMโ†’BAM conversion.

01

bam versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Collate/Fixmate/Sort/Markdup SAM/BAM/CRAM file

0101

bam cram csi crai metrics versions

samtools_cat:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

samtools_collate:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

samtools_fixmate:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

samtools_sort:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

samtools_markdup:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Sort SAM/BAM/CRAM file

0101

bam cram crai csi versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Produces comprehensive statistics from SAM/BAM/CRAM file

01201

stats versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

filter/convert SAM/BAM/CRAM file

0120100

bam cram sam bai csi crai unselected unselected_index versions

samtools:

SAMtools is a set of utilities for interacting with and post-processing short DNA sequence read alignments in the SAM, BAM and CRAM formats, written by Heng Li. These files are generated as output by short read aligners like BWA.

Apply a score cutoff to filter variants based on a recalibration table. Sentieon's Aplyvarcal performs the second pass in a two-stage process called Variant Quality Score Recalibration (VQSR). Specifically, it applies filtering to the input variants based on the recalibration table produced in the previous step VarCal and a target sensitivity value. https://support.sentieon.com/manual/usages/general/#applyvarcal-algorithm

0123450101

vcf tbi versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Create BWA index for reference genome

01

index versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Performs fastq alignment to a fasta reference using Sentieon's BWA MEM

01010101

bam_and_bai versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Accelerated implementation of the Picard CollectVariantCallingMetrics tool.

012012010101

metrics summary versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Accelerated implementation of the GATK DepthOfCoverage tool.

01201010101

per_locus sample_summary statistics coverage_counts coverage_proportions interval_summary versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Collects multiple quality metrics from a bam file

01201010

mq_metrics qd_metrics gc_summary gc_metrics aln_metrics is_metrics mq_plot qd_plot is_plot gc_plot versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Runs the sentieon tool LocusCollector followed by Dedup. LocusCollector collects read information that is used by Dedup which in turn marks or removes duplicate reads.

0120101

cram crai bam bai score metrics metrics_multiqc_tsv versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

modifies the input VCF file by adding the MLrejected FILTER to the variants

012010101

vcf index versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

DNAscope algorithm performs an improved version of Haplotype variant calling.

01230101010101000

vcf vcf_tbi gvcf gvcf_tbi versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Perform joint genotyping on one or more samples pre-called with Sentieon's Haplotyper.

012301010101

vcf_gz vcf_gz_tbi versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Runs Sentieon's haplotyper for germline variant calling.

012340101010100

vcf vcf_tbi gvcf gvcf_tbi versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Generate recalibration table and optionally perform base quality recalibration

01201010101010

table table_post recal_alignment csv pdf versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Merges BAM files, and/or convert them into cram files. Also, outputs the result of applying the Base Quality Score Recalibration to a file.

0120101

output index output_index versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Filters the raw output of sentieon/tnhaplotyper2.

01234560101

vcf vcf_tbi stats versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Tnhaplotyper2 performs somatic variant calling on the tumor-normal matched pairs.

01230101010101010100

orientation_data contamination_data contamination_segments stats vcf index versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

TNscope algorithm performs somatic variant calling on the tumor-normal matched pair or the tumor only data, using a Haplotyper algorithm.

012010101201201201

vcf index versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Module for Sentieons VarCal. The VarCal algorithm calculates the Variant Quality Score Recalibration (VQSR). VarCal builds a recalibration model for scoring variant quality. https://support.sentieon.com/manual/usages/general/#varcal-algorithm

01200000

recal idx tranches plots versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

Collects whole genome quality metrics from a bam file

012010101

wgs_metrics versions

sentieon:

Sentieonยฎ provides complete solutions for secondary DNA/RNA analysis for a variety of sequencing platforms, including short and long reads. Our software improves upon BWA, STAR, Minimap2, GATK, HaplotypeCaller, Mutect, and Mutect2 based pipelines and is deployable on any generic-CPU-based computing system.

smoove simplifies and speeds calling and genotyping SVs for short reads. It also improves specificity by removing many spurious alignment signals that are indicative of low-level noise and often contribute to spurious calls. Developed by Brent Pedersen.

01230101

vcf versions

smoove:

structural variant calling and genotyping with existing tools, but, smoothly

Short Read Sequence Typing for Bacterial Pathogens is a program designed to take Illumina sequence data, a MLST database and/or a database of gene sequences (e.g. resistance genes, virulence genes, etc) and report the presence of STs and/or reference genes.

012

gene_results fullgene_results mlst_results pileup sorted_bam versions

srst2:

Short Read Sequence Typing for Bacterial Pathogens

SvABA is an efficient and accurate method for detecting SVs from short-read sequencing data using genome-wide local assembly with low memory and computing requirements

01234010101010101

sv indel germ_indel germ_sv som_indel som_sv unfiltered_sv unfiltered_indel unfiltered_germ_indel unfiltered_germ_sv unfiltered_som_indel unfiltered_som_sv raw_calls discordants log versions

calculate locally stable secondary structures of RNAs

0

rnalfold_txt versions

viennarna:

calculate locally stable secondary structures of RNAs

Compute locally stable RNA secondary structure with a maximal base pair span. For a sequence of length n and a base pair span of L the algorithm uses only O(n+LL) memory and O(nL*L) CPU time. Thus it is practical to โ€œscanโ€ very large genomes for short RNA structures. Output consists of a list of secondary structure components of size <= L, one entry per line. Each output line contains the predicted local structure its energy in kcal/mol and the starting position of the local structure.

decomposes multiallelic variants into biallelic in a VCF file.

012

vcf versions

vt:

A tool set for short variant discovery in genetic sequence data

Decomposes biallelic block substitutions into its constituent SNPs.

0123

vcf versions

vt:

A tool set for short variant discovery in genetic sequence data

normalizes variants in a VCF file

01230101

vcf fai versions

vt:

A tool set for short variant discovery in genetic sequence data

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