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.

  • copy number 8
  • cnvkit 6
  • genomics 5
  • vcf 5
  • bam 4
  • fasta 4
  • cnv 4
  • somatic 4
  • wgs 4
  • gatk4 3
  • structural variants 3
  • imputation 3
  • wxs 3
  • small indels 3
  • panel 3
  • reference 2
  • phasing 2
  • haplotypes 2
  • msisensor-pro 2
  • micro-satellite-scan 2
  • panelofnormals 2
  • cvnkit 2
  • cram 1
  • sam 1
  • split 1
  • cna 1
  • low-coverage 1
  • genotype 1
  • population genetics 1
  • hybrid capture sequencing 1
  • copy number alteration calling 1
  • DNA sequencing 1
  • targeted sequencing 1
  • ancestry 1
  • cfDNA 1
  • ichorcna 1
  • msi 1
  • gwas 1
  • bgen 1
  • createreadcountpanelofnormals 1
  • admixture 1
  • reference panels 1
  • haploype 1
  • impute 1
  • reference compression 1
  • reference panel 1
  • createsomaticpanelofnormals 1
  • scan 1
  • panelofnormalscreation 1
  • jointgenotyping 1
  • genomicsdbimport 1
  • genomicsdb 1
  • panel_of_normals 1
  • antitarget 1
  • access 1
  • target 1
  • export 1
  • normal database 1
  • panel of normals 1
  • fastq 0
  • metagenomics 0
  • genome 0
  • index 0
  • alignment 0
  • assembly 0
  • bed 0
  • sort 0
  • annotation 0
  • variant calling 0
  • database 0
  • align 0
  • filter 0
  • merge 0
  • gff 0
  • bacteria 0
  • map 0
  • statistics 0
  • coverage 0
  • variants 0
  • qc 0
  • classification 0
  • quality control 0
  • gtf 0
  • download 0
  • nanopore 0
  • classify 0
  • k-mer 0
  • MSA 0
  • variant 0
  • contamination 0
  • taxonomy 0
  • gfa 0
  • taxonomic profiling 0
  • pacbio 0
  • sentieon 0
  • conversion 0
  • convert 0
  • proteomics 0
  • binning 0
  • count 0
  • clustering 0
  • quality 0
  • ancient DNA 0
  • VCF 0
  • single-cell 0
  • long reads 0
  • rnaseq 0
  • phylogeny 0
  • trimming 0
  • contigs 0
  • bedtools 0
  • graph 0
  • kmer 0
  • build 0
  • bisulfite 0
  • bcftools 0
  • mags 0
  • sv 0
  • gvcf 0
  • reporting 0
  • variation graph 0
  • isoseq 0
  • methylation 0
  • indexing 0
  • visualisation 0
  • databases 0
  • QC 0
  • bisulphite 0
  • methylseq 0
  • picard 0
  • compression 0
  • protein 0
  • bqsr 0
  • long-read 0
  • illumina 0
  • table 0
  • consensus 0
  • stats 0
  • tsv 0
  • taxonomic classification 0
  • serotype 0
  • phage 0
  • sequences 0
  • imaging 0
  • 5mC 0
  • metrics 0
  • mapping 0
  • demultiplex 0
  • depth 0
  • openms 0
  • antimicrobial resistance 0
  • DNA methylation 0
  • markduplicates 0
  • base quality score recalibration 0
  • protein sequence 0
  • repeat 0
  • histogram 0
  • searching 0
  • scWGBS 0
  • pairs 0
  • bins 0
  • samtools 0
  • WGBS 0
  • haplotype 0
  • example 0
  • filtering 0
  • structure 0
  • pangenome graph 0
  • matrix 0
  • aDNA 0
  • plot 0
  • expression 0
  • neural network 0
  • amr 0
  • cluster 0
  • bisulfite sequencing 0
  • mappability 0
  • transcriptome 0
  • aligner 0
  • LAST 0
  • completeness 0
  • bwa 0
  • archaeogenomics 0
  • plink2 0
  • transcript 0
  • machine learning 0
  • bcf 0
  • seqkit 0
  • cooler 0
  • damage 0
  • palaeogenomics 0
  • gzip 0
  • germline 0
  • iCLIP 0
  • annotate 0
  • virus 0
  • sequence 0
  • validation 0
  • gene 0
  • mmseqs2 0
  • metagenome 0
  • checkm 0
  • db 0
  • biscuit 0
  • decompression 0
  • ncbi 0
  • hmmer 0
  • ucsc 0
  • complexity 0
  • gff3 0
  • feature 0
  • spatial 0
  • newick 0
  • umi 0
  • genotyping 0
  • peaks 0
  • mag 0
  • segmentation 0
  • evaluation 0
  • kraken2 0
  • msa 0
  • blast 0
  • bismark 0
  • mkref 0
  • glimpse 0
  • hmmsearch 0
  • dedup 0
  • sketch 0
  • pangenome 0
  • reads 0
  • json 0
  • demultiplexing 0
  • mitochondria 0
  • plasmid 0
  • snp 0
  • profile 0
  • report 0
  • differential 0
  • multiple sequence alignment 0
  • low frequency variant calling 0
  • antimicrobial peptides 0
  • prokaryote 0
  • bedGraph 0
  • short-read 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
  • deamination 0
  • ptr 0
  • diversity 0
  • distance 0
  • mem 0
  • visualization 0
  • cat 0
  • isolates 0
  • concatenate 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
  • ont 0
  • fragment 0
  • call 0
  • MAF 0
  • sourmash 0
  • counts 0
  • indels 0
  • svtk 0
  • structural 0
  • coptr 0
  • antibiotic resistance 0
  • de novo assembly 0
  • compare 0
  • idXML 0
  • adapters 0
  • profiling 0
  • microbiome 0
  • mpileup 0
  • reference-free 0
  • 3-letter genome 0
  • clipping 0
  • merging 0
  • query 0
  • gridss 0
  • riboseq 0
  • view 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
  • normalization 0
  • bin 0
  • ganon 0
  • ATAC-seq 0
  • add 0
  • microsatellite 0
  • union 0
  • retrotransposon 0
  • miscoding lesions 0
  • isomir 0
  • compress 0
  • palaeogenetics 0
  • archaeogenetics 0
  • bgzip 0
  • telomere 0
  • skani 0
  • interval_list 0
  • hic 0
  • deep learning 0
  • paf 0
  • redundancy 0
  • cut 0
  • haplotypecaller 0
  • resistance 0
  • pypgx 0
  • HMM 0
  • enrichment 0
  • chromosome 0
  • gsea 0
  • logratio 0
  • happy 0
  • STR 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
  • SV 0
  • genmod 0
  • transcriptomics 0
  • DNA sequence 0
  • mtDNA 0
  • sample 0
  • abundance 0
  • sequencing 0
  • bedgraph 0
  • containment 0
  • snps 0
  • fgbio 0
  • fcs-gx 0
  • arriba 0
  • deeparg 0
  • macrel 0
  • mlst 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
  • subsample 0
  • pangolin 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
  • polishing 0
  • indel 0
  • PCA 0
  • mapper 0
  • fingerprint 0
  • genome mining 0
  • prokka 0
  • regions 0
  • typing 0
  • RNA-seq 0
  • genomes 0
  • neubi 0
  • entrez 0
  • eukaryotes 0
  • scores 0
  • seqtk 0
  • mcmicro 0
  • aln 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
  • RNA 0
  • rna_structure 0
  • microbes 0
  • proteome 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
  • combine 0
  • comparison 0
  • quality trimming 0
  • score 0
  • adapter trimming 0
  • popscle 0
  • pileup 0
  • genotype-based deconvoltion 0
  • bamtools 0
  • variant_calling 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
  • uLTRA 0
  • png 0
  • gstama 0
  • profiles 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
  • split_kmers 0
  • interactive 0
  • reformat 0
  • serogroup 0
  • minhash 0
  • GC content 0
  • maximum likelihood 0
  • megan 0
  • polyA_tail 0
  • hla 0
  • primer 0
  • hlala 0
  • k-mer frequency 0
  • hla_typing 0
  • hlala_typing 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
  • long terminal retrotransposon 0
  • transcriptomic 0
  • kma 0
  • parallelized 0
  • orthology 0
  • rrna 0
  • genetics 0
  • salmon 0
  • tnhaplotyper2 0
  • rgfa 0
  • small variants 0
  • multiallelic 0
  • nucleotides 0
  • cnvnator 0
  • proportionality 0
  • mitochondrion 0
  • orf 0
  • leviosam2 0
  • lift 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
  • import 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
  • cleaning 0
  • tumor 0
  • instability 0
  • MSI 0
  • Read depth 0
  • contig 0
  • RNA sequencing 0
  • soft-clipped clusters 0
  • snpsift 0
  • snpeff 0
  • effect prediction 0
  • shigella 0
  • switch 0
  • ancient dna 0
  • Streptococcus pneumoniae 0
  • sequenzautils 0
  • transformation 0
  • rename 0
  • salmonella 0
  • smrnaseq 0
  • varcal 0
  • fusions 0
  • Pharmacogenetics 0
  • scaffold 0
  • fixmate 0
  • retrotransposons 0
  • dict 0
  • collate 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
  • short reads 0
  • xenograft 0
  • graft 0
  • unaligned 0
  • fetch 0
  • realignment 0
  • GEO 0
  • trim 0
  • metagenomic 0
  • identifier 0
  • microscopy 0
  • expansionhunterdenovo 0
  • repeat_expansions 0
  • metadata 0
  • tab 0
  • microbial 0
  • allele-specific 0
  • emboss 0
  • MaltExtract 0
  • HOPS 0
  • authentication 0
  • gatk 0
  • edit distance 0
  • joint genotyping 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
  • 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
  • reheader 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
  • tnfilter 0
  • covariance model 0
  • dereplication 0
  • microbial genomics 0
  • jaccard 0
  • overlap 0
  • array_cgh 0
  • cytosure 0
  • decomposeblocksub 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
  • decompose 0
  • pca 0
  • pruning 0
  • subtract 0
  • linkage equilibrium 0
  • slopBed 0
  • transmembrane 0
  • genome graph 0
  • chunking 0
  • tnseq 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
  • clumping fastqs 0
  • deduping 0
  • plastid 0
  • smaller fastqs 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
  • intron 0
  • dream 0
  • md 0
  • transform 0
  • gaps 0
  • introns 0
  • nm 0
  • uq 0
  • install 0
  • joint-genotyping 0
  • genotypegvcf 0
  • BCF 0
  • short 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
  • tnscope 0
  • copyratios 0
  • comp 0
  • denoisereadcounts 0
  • readwriter 0
  • dnamodelapply 0
  • dnascope 0
  • tblastn 0
  • bedcov 0
  • genome polishing 0
  • groupby 0
  • assembly polishing 0
  • genotype dosages 0
  • vcf file 0
  • postprocessing 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
  • 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
  • mapad 0
  • adna 0
  • c to t 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
  • 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
  • standard 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
  • block substitutions 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
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  • regex 0
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  • installation 0
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  • collapse 0
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  • n50 0
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  • element 0
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  • bwamem2 0
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  • ribosomal 0
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  • tumor/normal 0
  • hla-typing 0
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  • HLA-I 0
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  • methylation bias 0
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  • heattree 0
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  • assembler 0
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  • mitochondrial genome 0
  • reference genome 0
  • gamma 0
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  • mosdepth 0
  • mitochondrial to nuclear ratio 0
  • otu table 0
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  • variant caller 0
  • rust 0
  • microsatellite instability 0
  • fq 0
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  • generate 0
  • adapter removal 0
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  • variantfiltration 0
  • svcluster 0
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  • splitintervals 0
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  • site depth 0
  • HMMER 0
  • amino acid 0
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  • 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
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  • models 0
  • shiftfasta 0
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  • 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
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  • effective genome size 0
  • pneumoniae 0
  • jupytext 0
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  • combining 0
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  • tranche filtering 0
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  • duplication metrics 0
  • papermill 0
  • Jupyter 0
  • annotations 0
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  • pos 0
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  • revert 0
  • IDR 0
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ADMIXTURE is a program for estimating ancestry in a model-based manner from large autosomal SNP genotype datasets, where the individuals are unrelated (for example, the individuals in a case-control association study).

01230

ancestry_fractions allele_frequencies versions

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.

Perform phasing of genotyped data with or without a reference panel

012345

phased_variants versions

Creates a panel of normals (PoN) for read-count denoising given the read counts for samples in the panel.

01

pon versions

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.

Create a panel of normals constraining germline and artifactual sites for use with mutect2.

01010101

vcf tbi versions

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.

merge GVCFs from multiple samples. For use in joint genotyping or somatic panel of normal creation.

012345000

genomicsdb updatedb intervallist versions

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.

Tool to create a binary reference panel for quick reading time.

0123401

bin_ref versions

glimpse2:

GLIMPSE2 is a phasing and imputation method for large-scale low-coverage sequencing studies.

ichorCNA is an R package for calculating copy number alteration from (low-pass) whole genome sequencing, particularly for use in cell-free DNA. This module generates a panel of normals

000000

rds txt versions

ichorcna:

Estimating tumor fraction in cell-free DNA from ultra-low-pass whole genome sequencing.

Manta calls structural variants (SVs) and indels from mapped paired-end sequencing reads. It is optimized for analysis of germline variation in small sets of individuals and somatic variation in tumor/normal sample pairs.

0123401010

candidate_small_indels_vcf candidate_small_indels_vcf_tbi candidate_sv_vcf candidate_sv_vcf_tbi diploid_sv_vcf diploid_sv_vcf_tbi versions

manta:

Structural variant and indel caller for mapped sequencing data

Manta calls structural variants (SVs) and indels from mapped paired-end sequencing reads. It is optimized for analysis of germline variation in small sets of individuals and somatic variation in tumor/normal sample pairs.

012345601010

candidate_small_indels_vcf candidate_small_indels_vcf_tbi candidate_sv_vcf candidate_sv_vcf_tbi diploid_sv_vcf diploid_sv_vcf_tbi somatic_sv_vcf somatic_sv_vcf_tbi versions

manta:

Structural variant and indel caller for mapped sequencing data

Manta calls structural variants (SVs) and indels from mapped paired-end sequencing reads. It is optimized for analysis of germline variation in small sets of individuals and somatic variation in tumor/normal sample pairs.

0123401010

candidate_small_indels_vcf candidate_small_indels_vcf_tbi candidate_sv_vcf candidate_sv_vcf_tbi tumor_sv_vcf tumor_sv_vcf_tbi versions

manta:

Structural variant and indel caller for mapped sequencing data

Compression of a reference panel for genotype imputation to .msav format

012

msav versions

minimac4:

Computationally efficient genotype imputation

Imputation of genotypes using a reference panel

0123456

vcf versions

minimac4:

Computationally efficient genotype imputation

MSIsensor-pro evaluates Microsatellite Instability (MSI) for cancer patients with next generation sequencing data. It accepts the whole genome sequencing, whole exome sequencing and target region (panel) sequencing data as input

01234500

output_report output_dis output_germline output_somatic versions

msisensorpro:

Microsatellite Instability (MSI) detection using high-throughput sequencing data.

MSIsensor-pro evaluates Microsatellite Instability (MSI) for cancer patients with next generation sequencing data. It accepts the whole genome sequencing, whole exome sequencing and target region (panel) sequencing data as input

01

list versions

msisensorpro:

Microsatellite Instability (MSI) detection using high-throughput sequencing data.

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

QUILT is an R and C++ program for rapid genotype imputation from low-coverage sequence using a large reference panel.

012345678910111213141501

vcf tbi rdata plots versions

quilt:

Read aware low coverage whole genome sequence imputation from a reference panel

STITCH is an R program for reference panel free, read aware, low coverage sequencing genotype imputation. STITCH runs on a set of samples with sequencing reads in BAM format, as well as a list of positions to genotype, and outputs imputed genotypes in VCF format.

0123456789100120

input rdata plots vcf bgen versions

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