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.

  • gatk4 51
  • vcf 19
  • bam 14
  • cram 8
  • bed 7
  • sort 7
  • structural variants 7
  • genotyping 7
  • bqsr 6
  • base quality score recalibration 6
  • gvcf 5
  • table 4
  • genotype 4
  • genomics 3
  • sam 3
  • filter 3
  • merge 3
  • pacbio 3
  • graph 3
  • markduplicates 3
  • single cell 3
  • mutect2 3
  • interval_list 3
  • spark 3
  • gatk4spark 3
  • repeat expansion 3
  • fasta 2
  • variant 2
  • convert 2
  • copy number 2
  • sv 2
  • picard 2
  • haplotype 2
  • demultiplexing 2
  • SNP 2
  • popscle 2
  • genotype-based deconvoltion 2
  • trgt 2
  • vg 2
  • panelofnormals 2
  • gatk 2
  • joint genotyping 2
  • interval list 2
  • filtermutectcalls 2
  • fastq 1
  • index 1
  • alignment 1
  • annotation 1
  • variant calling 1
  • variants 1
  • split 1
  • gfa 1
  • somatic 1
  • imputation 1
  • variation graph 1
  • wgs 1
  • pangenome graph 1
  • low-coverage 1
  • phasing 1
  • germline 1
  • glimpse 1
  • pangenome 1
  • json 1
  • mitochondria 1
  • concatenate 1
  • interval 1
  • counts 1
  • indels 1
  • mpileup 1
  • add 1
  • haplotypecaller 1
  • pypgx 1
  • SV 1
  • structural_variants 1
  • replace 1
  • dictionary 1
  • indel 1
  • RNA-seq 1
  • intervals 1
  • combine 1
  • read-group 1
  • switch 1
  • pharmacogenetics 1
  • concordance 1
  • bayesian 1
  • realignment 1
  • allele-specific 1
  • normalize 1
  • norm 1
  • eigenstrat 1
  • joint-genotyping 1
  • genotypegvcf 1
  • construct 1
  • graph projection to vcf 1
  • unmarkduplicates 1
  • copyratios 1
  • denoisereadcounts 1
  • createreadcountpanelofnormals 1
  • HLA 1
  • plotting 1
  • Bayesian 1
  • droplet based single cells 1
  • bedtointervallist 1
  • calibratedragstrmodel 1
  • getpileupsummaries 1
  • cross-samplecontamination 1
  • calculatecontamination 1
  • asereadcounter 1
  • vqsr 1
  • variant quality score recalibration 1
  • annotateintervals 1
  • targets 1
  • cnnscorevariants 1
  • collectreadcounts 1
  • determinegermlinecontigploidy 1
  • createsomaticpanelofnormals 1
  • createsequencedictionary 1
  • dragstr 1
  • composestrtablefile 1
  • short variant discovery 1
  • combinegvcfs 1
  • bacterial variant calling 1
  • germline variant calling 1
  • somatic variant calling 1
  • variant caller 1
  • variantrecalibrator 1
  • recalibration model 1
  • variantfiltration 1
  • svcluster 1
  • splitcram 1
  • shiftintervals 1
  • shiftfasta 1
  • readorientationartifacts 1
  • learnreadorientationmodel 1
  • readcountssummary 1
  • getpileupsumaries 1
  • germlinevariantsites 1
  • germlinecnvcaller 1
  • germline contig ploidy 1
  • panelofnormalscreation 1
  • jointgenotyping 1
  • genomicsdbimport 1
  • genomicsdb 1
  • tranche filtering 1
  • filtervarianttranches 1
  • filterintervals 1
  • shiftchain 1
  • selectvariants 1
  • revert 1
  • reblockgvcf 1
  • printsvevidence 1
  • printreads 1
  • preprocessintervals 1
  • postprocessgermlinecnvcalls 1
  • snvs 1
  • mergebamalignment 1
  • leftalignandtrimvariants 1
  • random draw 1
  • pseudohaploid 1
  • pseudodiploid 1
  • freqsum 1
  • error 1
  • graphs 1
  • metagenomics 0
  • genome 0
  • reference 0
  • assembly 0
  • database 0
  • align 0
  • gff 0
  • bacteria 0
  • map 0
  • statistics 0
  • coverage 0
  • qc 0
  • classification 0
  • quality control 0
  • gtf 0
  • download 0
  • nanopore 0
  • classify 0
  • cnv 0
  • k-mer 0
  • MSA 0
  • contamination 0
  • taxonomy 0
  • taxonomic profiling 0
  • sentieon 0
  • conversion 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
  • kmer 0
  • build 0
  • bisulfite 0
  • bcftools 0
  • mags 0
  • reporting 0
  • isoseq 0
  • methylation 0
  • indexing 0
  • visualisation 0
  • databases 0
  • QC 0
  • bisulphite 0
  • methylseq 0
  • compression 0
  • protein 0
  • long-read 0
  • illumina 0
  • cna 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
  • protein sequence 0
  • repeat 0
  • histogram 0
  • searching 0
  • scWGBS 0
  • pairs 0
  • bins 0
  • samtools 0
  • WGBS 0
  • example 0
  • filtering 0
  • structure 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
  • 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
  • peaks 0
  • mag 0
  • segmentation 0
  • evaluation 0
  • kraken2 0
  • msa 0
  • blast 0
  • bismark 0
  • mkref 0
  • population genetics 0
  • hmmsearch 0
  • dedup 0
  • sketch 0
  • reads 0
  • cnvkit 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
  • amps 0
  • tabular 0
  • detection 0
  • fastx 0
  • csv 0
  • de novo 0
  • FASTQ 0
  • text 0
  • kallisto 0
  • arg 0
  • summary 0
  • ont 0
  • fragment 0
  • call 0
  • MAF 0
  • sourmash 0
  • svtk 0
  • structural 0
  • coptr 0
  • wxs 0
  • antibiotic resistance 0
  • de novo assembly 0
  • compare 0
  • idXML 0
  • adapters 0
  • profiling 0
  • microbiome 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
  • microsatellite 0
  • union 0
  • retrotransposon 0
  • miscoding lesions 0
  • isomir 0
  • compress 0
  • palaeogenetics 0
  • archaeogenetics 0
  • bgzip 0
  • telomere 0
  • skani 0
  • hic 0
  • deep learning 0
  • paf 0
  • redundancy 0
  • cut 0
  • resistance 0
  • HMM 0
  • enrichment 0
  • chromosome 0
  • gsea 0
  • logratio 0
  • happy 0
  • STR 0
  • hybrid capture sequencing 0
  • HiFi 0
  • copy number alteration calling 0
  • chunk 0
  • biosynthetic gene cluster 0
  • bcl2fastq 0
  • propr 0
  • hmmcopy 0
  • image 0
  • DNA sequencing 0
  • umitools 0
  • parsing 0
  • quantification 0
  • BGC 0
  • public datasets 0
  • clean 0
  • ranking 0
  • phylogenetic placement 0
  • xeniumranger 0
  • targeted sequencing 0
  • genmod 0
  • transcriptomics 0
  • DNA sequence 0
  • mtDNA 0
  • sample 0
  • abundance 0
  • sequencing 0
  • bedgraph 0
  • containment 0
  • ancestry 0
  • snps 0
  • fgbio 0
  • fcs-gx 0
  • arriba 0
  • deeparg 0
  • macrel 0
  • mlst 0
  • amplify 0
  • fastk 0
  • das tool 0
  • html 0
  • C to T 0
  • DRAMP 0
  • das_tool 0
  • angsd 0
  • insert 0
  • fam 0
  • bim 0
  • fusion 0
  • small indels 0
  • subsample 0
  • pangolin 0
  • panel 0
  • UMI 0
  • pan-genome 0
  • rsem 0
  • pairsam 0
  • duplication 0
  • prokaryotes 0
  • bacterial 0
  • covid 0
  • benchmarking 0
  • lineage 0
  • polishing 0
  • PCA 0
  • mapper 0
  • fingerprint 0
  • genome mining 0
  • prokka 0
  • regions 0
  • typing 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
  • genome assembly 0
  • mzml 0
  • chimeras 0
  • PacBio 0
  • comparisons 0
  • comparison 0
  • quality trimming 0
  • score 0
  • adapter trimming 0
  • pileup 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
  • 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
  • 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
  • cgMLST 0
  • regression 0
  • taxids 0
  • SimpleAF 0
  • taxon name 0
  • zlib 0
  • differential expression 0
  • variation 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
  • 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
  • contig 0
  • RNA sequencing 0
  • soft-clipped clusters 0
  • snpsift 0
  • snpeff 0
  • effect prediction 0
  • shigella 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
  • runs_of_homozygosity 0
  • polish 0
  • taxonomic profile 0
  • assembly evaluation 0
  • duplex 0
  • deconvolution 0
  • merge mate pairs 0
  • reads merging 0
  • short reads 0
  • xenograft 0
  • graft 0
  • unaligned 0
  • fetch 0
  • GEO 0
  • trim 0
  • metagenomic 0
  • identifier 0
  • microscopy 0
  • expansionhunterdenovo 0
  • repeat_expansions 0
  • metadata 0
  • tab 0
  • microbial 0
  • emboss 0
  • MaltExtract 0
  • HOPS 0
  • authentication 0
  • edit distance 0
  • secondary metabolites 0
  • NRPS 0
  • RiPP 0
  • evidence 0
  • antibiotics 0
  • antismash 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
  • cvnkit 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
  • scatter 0
  • reheader 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
  • 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
  • cellpose 0
  • hifi 0
  • extractunbinned 0
  • linkbins 0
  • Assembly 0
  • sintax 0
  • vsearch/sort 0
  • subsample bam 0
  • downsample 0
  • usearch 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
  • comp 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
  • 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
  • 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
  • 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
  • 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
  • regtools 0
  • leafcutter 0
  • amp 0
  • pdb 0
  • recovery 0
  • mgi 0
  • Staphylococcus aureus 0
  • affy 0
  • block substitutions 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
  • 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
  • cobra 0
  • spatial_neighborhoods 0
  • Indel 0
  • grea 0
  • seqfu 0
  • multi-tool 0
  • predict 0
  • background_correction 0
  • illumiation_correction 0
  • hardy-weinberg 0
  • hwe statistics 0
  • hwe equilibrium 0
  • reference-independent 0
  • genotype likelihood 0
  • collapse 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
  • extension 0
  • temperate 0
  • read group 0
  • cram-size 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
  • size 0
  • Pacbio 0
  • quality check 0
  • realign 0
  • circular 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
  • paired reads merging 0
  • overlap-based merging 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
  • antimicrobial reistance 0
  • lexogen 0
  • genotype-based demultiplexing 0
  • donor deconvolution 0
  • cellsnp 0
  • trimfq 0
  • bigbed 0
  • cmseq 0
  • duplicate removal 0
  • mash/sketch 0
  • reduced 0
  • representations 0
  • maxbin2 0
  • metagenome-assembled genomes 0
  • mass-spectroscopy 0
  • mcr-1 0
  • MD5 0
  • 128 bit 0
  • megahit 0
  • taxonomic assignment 0
  • denovo 0
  • debruijn 0
  • daa 0
  • rma6 0
  • Neisseria meningitidis 0
  • 3D heat map 0
  • contour map 0
  • Merqury 0
  • ploidy 0
  • AMP 0
  • collapsing 0
  • legionella 0
  • clinical 0
  • pneumophila 0
  • limma 0
  • Listeria monocytogenes 0
  • condensedepthevidence 0
  • lofreq/call 0
  • lofreq/filter 0
  • qualities 0
  • peptide prediction 0
  • estimate 0
  • functional genomics 0
  • sgRNA 0
  • CRISPR-Cas9 0
  • maximum-likelihood 0
  • rra 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
  • NextGenMap 0
  • ngm 0
  • Neisseria gonorrhoeae 0
  • gender 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
  • gangstr 0
  • assembler 0
  • de Bruijn 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
  • 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
  • svannotate 0
  • gccounter 0
  • splitintervals 0
  • readcounter 0
  • site depth 0
  • HMMER 0
  • amino acid 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
  • hmtnote 0
  • reorder 0
  • Klebsiella 0
  • indexfeaturefile 0
  • kallisto/index 0
  • quant 0
  • digital normalization 0
  • k-mer counting 0
  • effective genome size 0
  • pneumoniae 0
  • jupytext 0
  • kegg 0
  • kofamscan 0
  • combining 0
  • gatherbqsrreports 0
  • estimatelibrarycomplexity 0
  • duplication metrics 0
  • papermill 0
  • Jupyter 0
  • annotations 0
  • pixel_classification 0
  • pos 0
  • haemophilus 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
  • interproscan 0
  • genomic islands 0
  • insertion 0
  • mutectstats 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
  • 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
  • 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
  • amplicon 0
  • ampliconclip 0
  • scatterplot 0
  • calmd 0
  • corrrelation 0
  • faidx 0
  • track 0
  • insert size 0
  • repair 0
  • paired 0
  • read pairs 0
  • readgroup 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
  • applyvarcal 0
  • cutesv 0
  • VQSR 0
  • variant recalibration 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
  • detecting svs 0
  • short-read sequencing 0
  • polymorphic sites 0
  • svtk/baftest 0
  • baftest 0
  • countsvtypes 0
  • rdtest 0
  • antitarget 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
  • access 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
  • target 0
  • export 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
  • str 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
  • 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
  • intervals coverage 0
  • split by chromosome 0
  • deletion 0
  • genomic intervals 0
  • schema 0
  • normal database 0
  • panel of normals 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

Extracts reads mapped to chromosome 6 and any HLA decoys or chromosome 6 alternates.

01

extracted_reads_fastq log intermediate_sam intermediate_bam intermediate_sorted_bam versions

arcashla:

arcasHLA performs high resolution genotyping for HLA class I and class II genes from RNA sequencing, supporting both paired and single-end samples.

Cellsnp-lite is a C/C++ tool for efficient genotyping bi-allelic SNPs on single cells. You can use the mode A of cellsnp-lite after read alignment to obtain the snp x cell pileup UMI or read count matrices for each alleles of given or detected SNPs for droplet based single cell data.

01234

base cell sample allele_depth depth_coverage depth_other versions

cellsnp:

Efficient genotyping bi-allelic SNPs on single cells

A haplotype-based variant detector

0123450101010101

vcf versions

Generates a list of locations that should be considered for local realignment prior genotyping.

01201010101

intervals versions

gatk:

The full Genome Analysis Toolkit (GATK) framework, license restricted.

Assigns all the reads in a file to a single new read-group

010101

bam bai cram 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.

Annotates intervals with GC content, mappability, and segmental-duplication content

0101010101010101

annotated_intervals 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.

Apply base quality score recalibration (BQSR) to a bam file

01234000

bam cram 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.

Apply base quality score recalibration (BQSR) to a bam file

metainputinput_indexbqsr_tableintervalsfastafaidict

meta versions bam cram

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.

Apply a score cutoff to filter variants based on a recalibration table. AplyVQSR 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 first step by VariantRecalibrator and a target sensitivity value.

012345000

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.

Calculates the allele-specific read counts for allele-specific expression analysis of RNAseq data

012340101010

csv 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.

Generate recalibration table for Base Quality Score Recalibration (BQSR)

01230101010101

table 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.

Generate recalibration table for Base Quality Score Recalibration (BQSR)

metainputinput_indexintervalsfastafaidictknown_sitesknown_sites_tbi

meta versions table

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.

Creates an interval list from a bed file and a reference dict

0101

interval_list 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.

Calculates the fraction of reads from cross-sample contamination based on summary tables from getpileupsummaries. Output to be used with filtermutectcalls.

012

contamination segmentation 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.

estimates the parameters for the DRAGstr model

0120000

dragstr_model 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.

Apply a Convolutional Neural Net to filter annotated variants

0123400000

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.

Collects read counts at specified intervals. The count for each interval is calculated by counting the number of read starts that lie in the interval.

0123010101

hdf5 tsv 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.

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.

This tool looks for low-complexity STR sequences along the reference that are later used to estimate the Dragstr model during single sample auto calibration CalibrateDragstrModel.

000

str_table 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.

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.

Creates a sequence dictionary for a reference sequence

01

dict versions

gatk:

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.

Denoises read counts to produce denoised copy ratios

0101

standardized denoised 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.

Determines the baseline contig ploidy for germline samples given counts data

0123010

calls model 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.

Converts FastQ file to SAM/BAM format

01

bam 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.

Filters intervals based on annotations and/or count statistics.

010101

interval_list 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.

Filters the raw output of mutect2, can optionally use outputs of calculatecontamination and learnreadorientationmodel to improve filtering.

01234567010101

vcf tbi stats 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.

Apply tranche filtering

012300000

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.

Perform joint genotyping on one or more samples pre-called with HaplotypeCaller.

012340101010101

vcf tbi versions

gatk4:

Genome Analysis Toolkit (GATK4)

Calls copy-number variants in germline samples given their counts and the output of DetermineGermlineContigPloidy.

01234

cohortcalls cohortmodel casecalls 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.

Summarizes counts of reads that support reference, alternate and other alleles for given sites. Results can be used with CalculateContamination. Requires a common germline variant sites file, such as from gnomAD.

012301010100

table 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.

Call germline SNPs and indels via local re-assembly of haplotypes

012340101010101

vcf tbi bam 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.

Splits the interval list file into unique, equally-sized interval files and place it under a directory

01

interval_list 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.

Uses f1r2 counts collected during mutect2 to Learn the prior probability of read orientation artifacts

01

artifactprior 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.

Left align and trim variants using GATK4 LeftAlignAndTrimVariants.

0123000

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.

This tool locates and tags duplicate reads in a BAM or SAM file, where duplicate reads are defined as originating from a single fragment of DNA.

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cram bam crai bai metrics 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.

This tool locates and tags duplicate reads in a BAM or SAM file, where duplicate reads are defined as originating from a single fragment of DNA.

metabamfastafaidict

meta versions output bam_index

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 unmapped with mapped BAM files

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bam 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.

Merges several vcf files

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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.

Call somatic SNVs and indels via local assembly of haplotypes.

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vcf tbi stats f1r2 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.

Postprocesses the output of GermlineCNVCaller and generates VCFs and denoised copy ratios

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intervals segments denoised 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.

Prepares bins for coverage collection.

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interval_list 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.

Print reads in the SAM/BAM/CRAM file

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bam cram sam 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.

WARNING - this tool is still experimental and shouldn't be used in a production setting. Gathers paired-end and split read evidence files for use in the GATK-SV pipeline. Output files are a file containing the location of and orientation of read pairs marked as discordant, and a file containing the clipping location of all soft clipped reads and the orientation of the clipping.

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printed_evidence printed_evidence_index 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.

Condenses homRef blocks in a single-sample GVCF

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vcf 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.

Reverts SAM or BAM files to a previous state.

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bam 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.

Converts BAM/SAM file to FastQ format

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fastq 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.

Select a subset of variants from a VCF file

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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.

Create a fasta with the bases shifted by offset

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shift_fa shift_fai shift_back_chain dict intervals shift_intervals 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.

Splits CRAM files efficiently by taking advantage of their container based structure

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split_crams 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.

Splits reads that contain Ns in their cigar string

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bam 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.

Clusters structural variants based on coordinates, event type, and supporting algorithms

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clustered_vcf clustered_vcf_index 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.

This tool locates and unmark the marked duplicate reads in a BAM or SAM file, where duplicate reads are defined as originating from a single fragment of DNA.

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bam bai 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.

Filter variants

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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.

Build a recalibration model to score variant quality for filtering purposes. It is highly recommended to follow GATK best practices when using this module, the gaussian mixture model requires a large number of samples to be used for the tool to produce optimal results. For example, 30 samples for exome data. For more details see https://gatk.broadinstitute.org/hc/en-us/articles/4402736812443-Which-training-sets-arguments-should-I-use-for-running-VQSR-

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recal idx tranches plots 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.

Extract fields from a VCF file to a tab-delimited table

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table 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.

Apply base quality score recalibration (BQSR) to a bam file

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bam cram 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.

Generate recalibration table for Base Quality Score Recalibration (BQSR)

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table 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.

This tool locates and tags duplicate reads in a BAM or SAM file, where duplicate reads are defined as originating from a single fragment of DNA.

01000

output bam_index metrics 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.

Program to compute the genotyping error rate at the sample or marker level.

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errors_cal errors_grp errors_spl rsquare_grp rsquare_spl rsquare_per_site versions

glimpse2:

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

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.

NVIDIA Clara Parabricks GPU-accelerated joint genotyping, replicating GATK GenotypeGVCFs

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vcf versions

parabricks:

NVIDIA Clara Parabricks GPU-accelerated genomics tools

Genotype structural variants using paragraph and grmpy

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vcf json versions

paragraph:

Graph realignment tools for structural variants

Creates an interval list from a bed file and a reference dict

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interval_list 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.

Software to deconvolute sample identity and identify multiplets when multiple samples are pooled by barcoded single cell sequencing and external genotyping data for each sample is available.

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demuxlet_result versions

popscle:

A suite of population scale analysis tools for single-cell genomics data including implementation of Demuxlet / Freemuxlet methods and auxiliary tools

Software to deconvolute sample identity and identify multiplets when multiple samples are pooled by barcoded single cell sequencing and external genotyping data for each sample is not available.

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result vcf lmix singlet_result singlet_vcf versions

popscle:

A suite of population scale analysis tools for single-cell genomics data including implementation of Demuxlet / Freemuxlet methods and auxiliary tools

PyPGx pharmacogenomics genotyping pipeline for NGS data.

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results cnv_calls consolidated_variants versions

pypgx:

A Python package for pharmacogenomics research

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

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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.

PileupCaller is a tool to create genotype calls from bam files using read-sampling methods

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eigenstrat plink freqsum versions

sequencetools:

Tools for population genetics on sequencing data

Program to compute switch error rate and genotyping error rate given simulated or trio data.

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errors versions

shapeit5:

Fast and accurate method for estimation of haplotypes (phasing)

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.

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vcf versions

smoove:

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

SVTyper performs breakpoint genotyping of structural variants (SVs) using whole genome sequencing data

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json gt_vcf bam versions

svtyper:

Compute genotype of structural variants based on breakpoint depth

SVTyper-sso computes structural variant (SV) genotypes based on breakpoint depth on a SINGLE sample

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gt_vcf json versions

svtyper:

Bayesian genotyper for structural variants

Tandem repeat genotyping from PacBio HiFi data

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vcf bam versions

trgt:

Tandem repeat genotyping and visualization from PacBio HiFi data

Merge TRGT VCFs from multiple samples

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vcf versions

trgt:

Tandem repeat genotyping and visualization from PacBio HiFi data

Visualize tandem repeats genotyped by TRGT

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plot versions

trgt:

Tandem repeat genotyping and visualization from PacBio HiFi data

Constructs a graph from a reference and variant calls or a multiple sequence alignment file

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graph versions

vg:

Variation graph data structures, interchange formats, alignment, genotyping, and variant calling methods.

Deconstruct snarls present in a variation graph in GFA format to variants in VCF format

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vcf versions

vg:

Variation graph data structures, interchange formats, alignment, genotyping, and variant calling methods.

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xg vg_index versions

vg:

Variation graph data structures, interchange formats, alignment, genotyping, and variant calling methods.

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