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.

  • structural variants 40
  • vcf 36
  • sv 10
  • bed 6
  • bam 5
  • annotation 5
  • svtk 5
  • gridss 5
  • gatk4 4
  • variants 4
  • wgs 4
  • structural 4
  • bedpe 4
  • somatic 3
  • conversion 3
  • genotyping 3
  • json 3
  • wxs 3
  • survivor 3
  • small indels 3
  • panel 3
  • genomics 2
  • cram 2
  • sort 2
  • filter 2
  • merge 2
  • statistics 2
  • download 2
  • variant 2
  • pacbio 2
  • benchmark 2
  • SV 2
  • comparison 2
  • somatic variants 2
  • svdb 2
  • standardization 2
  • tab 2
  • fasta 1
  • genome 1
  • alignment 1
  • variant calling 1
  • coverage 1
  • nanopore 1
  • long reads 1
  • graph 1
  • build 1
  • metrics 1
  • depth 1
  • tsv 1
  • example 1
  • annotate 1
  • bcf 1
  • indels 1
  • query 1
  • normalization 1
  • benchmarking 1
  • structural_variants 1
  • vg 1
  • baf 1
  • intersection 1
  • estimation 1
  • simulation 1
  • construct 1
  • vcf2bed 1
  • wham 1
  • chromosomal rearrangements 1
  • whamg 1
  • rdtest 1
  • rdtest2vcf 1
  • countsvtypes 1
  • baftest 1
  • svtk/baftest 1
  • detecting svs 1
  • short-read sequencing 1
  • standardize 1
  • structural variant 1
  • Bayesian 1
  • collectsvevidence 1
  • cache 1
  • printsvevidence 1
  • svcluster 1
  • svannotate 1
  • installation 1
  • depth information 1
  • structural variation 1
  • duphold 1
  • deletions 1
  • tandem duplications 1
  • insertions 1
  • jasmine 1
  • jasminesv 1
  • somatic structural variations 1
  • graphs 1
  • paragraph 1
  • mobile element insertions 1
  • cancer genome 1
  • fastq 0
  • metagenomics 0
  • index 0
  • assembly 0
  • reference 0
  • sam 0
  • database 0
  • align 0
  • gff 0
  • map 0
  • bacteria 0
  • qc 0
  • quality control 0
  • classification 0
  • gtf 0
  • classify 0
  • cnv 0
  • split 0
  • k-mer 0
  • MSA 0
  • contamination 0
  • taxonomic profiling 0
  • gfa 0
  • taxonomy 0
  • sentieon 0
  • convert 0
  • proteomics 0
  • clustering 0
  • count 0
  • quality 0
  • binning 0
  • ancient DNA 0
  • VCF 0
  • copy number 0
  • single-cell 0
  • rnaseq 0
  • trimming 0
  • bedtools 0
  • contigs 0
  • phylogeny 0
  • imputation 0
  • bcftools 0
  • gvcf 0
  • kmer 0
  • isoseq 0
  • bisulfite 0
  • mags 0
  • variation graph 0
  • reporting 0
  • visualisation 0
  • indexing 0
  • methylation 0
  • methylseq 0
  • bisulphite 0
  • bqsr 0
  • picard 0
  • compression 0
  • table 0
  • consensus 0
  • long-read 0
  • protein 0
  • illumina 0
  • QC 0
  • databases 0
  • cna 0
  • serotype 0
  • antimicrobial resistance 0
  • 5mC 0
  • openms 0
  • stats 0
  • imaging 0
  • taxonomic classification 0
  • phage 0
  • mapping 0
  • sequences 0
  • demultiplex 0
  • histogram 0
  • markduplicates 0
  • DNA methylation 0
  • amr 0
  • samtools 0
  • WGBS 0
  • scWGBS 0
  • haplotype 0
  • structure 0
  • aDNA 0
  • bins 0
  • searching 0
  • pairs 0
  • protein sequence 0
  • matrix 0
  • base quality score recalibration 0
  • cluster 0
  • filtering 0
  • neural network 0
  • pangenome graph 0
  • expression 0
  • plot 0
  • repeat 0
  • validation 0
  • mappability 0
  • iCLIP 0
  • phasing 0
  • gzip 0
  • virus 0
  • completeness 0
  • metagenome 0
  • checkm 0
  • db 0
  • cooler 0
  • germline 0
  • transcript 0
  • seqkit 0
  • bwa 0
  • transcriptome 0
  • aligner 0
  • bisulfite sequencing 0
  • biscuit 0
  • machine learning 0
  • low-coverage 0
  • sequence 0
  • genotype 0
  • damage 0
  • palaeogenomics 0
  • archaeogenomics 0
  • mmseqs2 0
  • plink2 0
  • LAST 0
  • gene 0
  • decompression 0
  • mkref 0
  • ncbi 0
  • umi 0
  • population genetics 0
  • blast 0
  • evaluation 0
  • newick 0
  • hmmer 0
  • dedup 0
  • complexity 0
  • sketch 0
  • hmmsearch 0
  • segmentation 0
  • mag 0
  • peaks 0
  • gff3 0
  • feature 0
  • ucsc 0
  • msa 0
  • spatial 0
  • glimpse 0
  • bismark 0
  • kraken2 0
  • short-read 0
  • antimicrobial resistance genes 0
  • scRNA-seq 0
  • antimicrobial peptides 0
  • mitochondria 0
  • report 0
  • snp 0
  • kmers 0
  • bedGraph 0
  • differential 0
  • low frequency variant calling 0
  • profile 0
  • prokaryote 0
  • deduplication 0
  • vsearch 0
  • extract 0
  • NCBI 0
  • demultiplexing 0
  • multiple sequence alignment 0
  • cnvkit 0
  • reads 0
  • pangenome 0
  • plasmid 0
  • prediction 0
  • mirna 0
  • tumor-only 0
  • duplicates 0
  • single 0
  • splicing 0
  • detection 0
  • isolates 0
  • reference-free 0
  • de novo assembly 0
  • FASTQ 0
  • tabular 0
  • call 0
  • 3-letter genome 0
  • mem 0
  • idXML 0
  • concatenate 0
  • fragment 0
  • antibiotic resistance 0
  • diversity 0
  • distance 0
  • adapters 0
  • merging 0
  • cat 0
  • sourmash 0
  • fastx 0
  • de novo 0
  • arg 0
  • coptr 0
  • ptr 0
  • text 0
  • csv 0
  • summary 0
  • single cell 0
  • visualization 0
  • counts 0
  • amps 0
  • mpileup 0
  • interval 0
  • microbiome 0
  • ont 0
  • profiling 0
  • view 0
  • riboseq 0
  • mutect2 0
  • clipping 0
  • MAF 0
  • deamination 0
  • kallisto 0
  • compare 0
  • xeniumranger 0
  • CLIP 0
  • hic 0
  • paf 0
  • umitools 0
  • matching 0
  • sample 0
  • cut 0
  • copy number alteration calling 0
  • bedgraph 0
  • hybrid capture sequencing 0
  • sequencing 0
  • ngscheckmate 0
  • DNA sequencing 0
  • logratio 0
  • targeted sequencing 0
  • haplotypecaller 0
  • genmod 0
  • ranking 0
  • bgzip 0
  • peak-calling 0
  • microsatellite 0
  • circrna 0
  • read depth 0
  • enrichment 0
  • retrotransposon 0
  • compress 0
  • phylogenetic placement 0
  • dna 0
  • pypgx 0
  • STR 0
  • ccs 0
  • containment 0
  • bin 0
  • public datasets 0
  • fgbio 0
  • mtDNA 0
  • snps 0
  • telomere 0
  • diamond 0
  • bigwig 0
  • deep learning 0
  • genome assembler 0
  • transcriptomics 0
  • quantification 0
  • interval_list 0
  • gsea 0
  • preprocessing 0
  • happy 0
  • redundancy 0
  • HiFi 0
  • ganon 0
  • HMM 0
  • miscoding lesions 0
  • palaeogenetics 0
  • archaeogenetics 0
  • family 0
  • isomir 0
  • hmmcopy 0
  • propr 0
  • rna 0
  • ATAC-seq 0
  • ampir 0
  • microarray 0
  • ancestry 0
  • union 0
  • skani 0
  • fai 0
  • resistance 0
  • chunk 0
  • image 0
  • BGC 0
  • parsing 0
  • clean 0
  • biosynthetic gene cluster 0
  • add 0
  • bcl2fastq 0
  • malt 0
  • DNA sequence 0
  • chromosome 0
  • fungi 0
  • abundance 0
  • krona 0
  • spark 0
  • pairsam 0
  • popscle 0
  • amplicon sequences 0
  • pan-genome 0
  • covid 0
  • ambient RNA removal 0
  • combine 0
  • genotype-based deconvoltion 0
  • long_read 0
  • regions 0
  • scores 0
  • bracken 0
  • miRNA 0
  • fingerprint 0
  • amplify 0
  • PCA 0
  • duplication 0
  • minimap2 0
  • html 0
  • macrel 0
  • ligate 0
  • uLTRA 0
  • bacterial 0
  • transposons 0
  • lineage 0
  • comparisons 0
  • seqtk 0
  • pangolin 0
  • image_analysis 0
  • khmer 0
  • chimeras 0
  • hidden Markov model 0
  • intervals 0
  • wastewater 0
  • mask 0
  • bakta 0
  • fam 0
  • UMI 0
  • bim 0
  • angsd 0
  • insert 0
  • pileup 0
  • converter 0
  • host 0
  • PacBio 0
  • SNP 0
  • npz 0
  • bamtools 0
  • windowmasker 0
  • mapper 0
  • cfDNA 0
  • variant_calling 0
  • amplicon sequencing 0
  • pseudoalignment 0
  • typing 0
  • krona chart 0
  • reports 0
  • notebook 0
  • entrez 0
  • guide tree 0
  • indel 0
  • virulence 0
  • mcmicro 0
  • roh 0
  • highly_multiplexed_imaging 0
  • population genomics 0
  • tabix 0
  • png 0
  • replace 0
  • fastk 0
  • fcs-gx 0
  • kraken 0
  • score 0
  • fusion 0
  • cut up 0
  • observations 0
  • arriba 0
  • gene expression 0
  • cool 0
  • rna_structure 0
  • cellranger 0
  • dump 0
  • genomes 0
  • zip 0
  • relatedness 0
  • identity 0
  • kinship 0
  • informative sites 0
  • microbes 0
  • RNA 0
  • CRISPR 0
  • eukaryotes 0
  • wig 0
  • prokka 0
  • chip-seq 0
  • mzml 0
  • remove 0
  • RNA-seq 0
  • mlst 0
  • DRAMP 0
  • repeat expansion 0
  • lossless 0
  • atac-seq 0
  • prokaryotes 0
  • checkv 0
  • sylph 0
  • gatk4spark 0
  • dist 0
  • organelle 0
  • archiving 0
  • mkfastq 0
  • dictionary 0
  • genome assembly 0
  • quality trimming 0
  • hi-c 0
  • C to T 0
  • vrhyme 0
  • das tool 0
  • neubi 0
  • das_tool 0
  • uncompress 0
  • transcripts 0
  • ataqv 0
  • deeparg 0
  • bwameth 0
  • aln 0
  • proteome 0
  • spaceranger 0
  • untar 0
  • genome mining 0
  • subsample 0
  • polishing 0
  • complement 0
  • shapeit 0
  • adapter trimming 0
  • rsem 0
  • prefetch 0
  • nucleotide 0
  • unzip 0
  • genetics 0
  • zlib 0
  • microscopy 0
  • gene set analysis 0
  • ampgram 0
  • trim 0
  • import 0
  • amptransformer 0
  • gene set 0
  • concordance 0
  • vcflib 0
  • gem 0
  • variation 0
  • taxon name 0
  • library 0
  • variant pruning 0
  • gstama 0
  • regression 0
  • edit distance 0
  • taxids 0
  • phase 0
  • bfiles 0
  • subset 0
  • MaltExtract 0
  • preseq 0
  • genomad 0
  • interactions 0
  • adapter 0
  • differential expression 0
  • tama 0
  • HOPS 0
  • ChIP-seq 0
  • trancriptome 0
  • functional analysis 0
  • authentication 0
  • bustools 0
  • metamaps 0
  • RiPP 0
  • simulate 0
  • megan 0
  • small variants 0
  • nextclade 0
  • multiallelic 0
  • checksum 0
  • artic 0
  • aggregate 0
  • demultiplexed reads 0
  • RNA-Seq 0
  • NRPS 0
  • tree 0
  • minhash 0
  • nucleotides 0
  • mash 0
  • xz 0
  • archive 0
  • graph layout 0
  • cnvnator 0
  • mudskipper 0
  • k-mer frequency 0
  • k-mer index 0
  • antibiotics 0
  • tumor 0
  • reformatting 0
  • msi 0
  • instability 0
  • MSI 0
  • homoploymer 0
  • antismash 0
  • rrna 0
  • spatial_transcriptomics 0
  • GC content 0
  • resolve_bioscience 0
  • orthology 0
  • parallelized 0
  • profiles 0
  • tnhaplotyper2 0
  • removal 0
  • assembly evaluation 0
  • rgfa 0
  • transcriptomic 0
  • COBS 0
  • bloom filter 0
  • lift 0
  • read-group 0
  • refine 0
  • ped 0
  • maximum likelihood 0
  • iphop 0
  • instrain 0
  • orf 0
  • SimpleAF 0
  • ichorcna 0
  • reformat 0
  • salmon 0
  • mapcounter 0
  • hlala_typing 0
  • hla_typing 0
  • hlala 0
  • hla 0
  • xenograft 0
  • graft 0
  • haplogroups 0
  • leviosam2 0
  • polyA_tail 0
  • purge duplications 0
  • proportionality 0
  • long terminal repeat 0
  • pharokka 0
  • function 0
  • lofreq 0
  • serogroup 0
  • barcode 0
  • primer 0
  • secondary metabolites 0
  • retrotransposons 0
  • mitochondrion 0
  • GPU-accelerated 0
  • long terminal retrotransposon 0
  • pair 0
  • interactive 0
  • krakenuniq 0
  • registration 0
  • kma 0
  • krakentools 0
  • image_processing 0
  • screen 0
  • concat 0
  • micro-satellite-scan 0
  • samplesheet 0
  • frame-shift correction 0
  • sizes 0
  • long-read sequencing 0
  • sequence analysis 0
  • bases 0
  • gwas 0
  • eigenstrat 0
  • validate 0
  • format 0
  • region 0
  • salmonella 0
  • eido 0
  • pharmacogenetics 0
  • rename 0
  • blastp 0
  • deseq2 0
  • rna-seq 0
  • transformation 0
  • awk 0
  • de novo assembler 0
  • emboss 0
  • varcal 0
  • blastn 0
  • soft-clipped clusters 0
  • fixmate 0
  • otu tables 0
  • standardisation 0
  • unaligned 0
  • standardise 0
  • UMIs 0
  • duplex 0
  • taxonomic profile 0
  • fetch 0
  • GEO 0
  • metagenomic 0
  • fusions 0
  • identifier 0
  • expansionhunterdenovo 0
  • repeat_expansions 0
  • metadata 0
  • pigz 0
  • find 0
  • Pharmacogenetics 0
  • BAM 0
  • heatmap 0
  • dict 0
  • trgt 0
  • human removal 0
  • single cells 0
  • calling 0
  • genome bins 0
  • nacho 0
  • cnv calling 0
  • CNV 0
  • screening 0
  • cleaning 0
  • cvnkit 0
  • cancer genomics 0
  • decontamination 0
  • snpsift 0
  • snpeff 0
  • split_kmers 0
  • recombination 0
  • effect prediction 0
  • corrupted 0
  • eCLIP 0
  • splice 0
  • parse 0
  • nanostring 0
  • hostile 0
  • small genome 0
  • ancient dna 0
  • doublets 0
  • spatial_omics 0
  • random forest 0
  • metagenomes 0
  • sequenzautils 0
  • Streptococcus pneumoniae 0
  • signature 0
  • FracMinHash sketch 0
  • structural-variant calling 0
  • anndata 0
  • fasterq-dump 0
  • mRNA 0
  • sra-tools 0
  • settings 0
  • version 0
  • switch 0
  • correction 0
  • shigella 0
  • immunoprofiling 0
  • gene labels 0
  • join 0
  • vdj 0
  • taxon tables 0
  • windows 0
  • collate 0
  • panelofnormals 0
  • msisensor-pro 0
  • deconvolution 0
  • WGS 0
  • evidence 0
  • realignment 0
  • cgMLST 0
  • tbi 0
  • intersect 0
  • contig 0
  • normalize 0
  • mirdeep2 0
  • scaffold 0
  • repeats 0
  • polish 0
  • microbial 0
  • MCMICRO 0
  • gatk 0
  • joint genotyping 0
  • ome-tif 0
  • orthologs 0
  • runs_of_homozygosity 0
  • scaffolding 0
  • duplicate 0
  • bayesian 0
  • short reads 0
  • reads merging 0
  • merge mate pairs 0
  • allele-specific 0
  • scatter 0
  • interval list 0
  • haplotypes 0
  • smrnaseq 0
  • rtgtools 0
  • Duplication purging 0
  • allele 0
  • bam2fq 0
  • filtermutectcalls 0
  • Read depth 0
  • junctions 0
  • dereplicate 0
  • reheader 0
  • RNA sequencing 0
  • norm 0
  • files 0
  • hmmfetch 0
  • propd 0
  • linkbins 0
  • covariance models 0
  • hash sketch 0
  • scRNA-Seq 0
  • reverse complement 0
  • signatures 0
  • ucsc/liftover 0
  • fracminhash sketch 0
  • Read coverage histogram 0
  • extractunbinned 0
  • unmarkduplicates 0
  • umicollapse 0
  • transmembrane 0
  • decompose 0
  • network 0
  • htseq 0
  • trna 0
  • downsample 0
  • deduplicate 0
  • wget 0
  • sompy 0
  • SINE 0
  • decoy 0
  • downsample bam 0
  • uniq 0
  • vcfbreakmulti 0
  • subsample bam 0
  • vcf2db 0
  • toml 0
  • gemini 0
  • VCFtools 0
  • snv 0
  • ribosomal RNA 0
  • predictions 0
  • rRNA 0
  • upd 0
  • constant 0
  • Escherichia coli 0
  • invariant 0
  • uniparental 0
  • SNPs 0
  • genome graph 0
  • plant 0
  • graph projection to vcf 0
  • tnseq 0
  • disomy 0
  • DNA contamination estimation 0
  • verifybamid 0
  • dbnsfp 0
  • gtftogenepred 0
  • streptococcus 0
  • spatype 0
  • eucaryotes 0
  • snakemake 0
  • workflow 0
  • decompress 0
  • assembly polishing 0
  • lua 0
  • sliding 0
  • workflow_mode 0
  • wavefront 0
  • mashmap 0
  • createreadcountpanelofnormals 0
  • genome polishing 0
  • hicPCA 0
  • denoisereadcounts 0
  • c to t 0
  • copy number variation 0
  • yahs 0
  • copy number alterations 0
  • geo 0
  • Mycobacterium tuberculosis 0
  • mapad 0
  • adna 0
  • proteus 0
  • eigenvectors 0
  • readproteingroups 0
  • melon 0
  • bedcov 0
  • gender determination 0
  • fast5 0
  • copy number analysis 0
  • polya tail 0
  • copy-number 0
  • copyratios 0
  • readwriter 0
  • boxcox 0
  • variantcalling 0
  • bedtobigbed 0
  • tnscope 0
  • bgen 0
  • scanner 0
  • chloroplast 0
  • genepred 0
  • confidence 0
  • sccmec 0
  • bigbed 0
  • vsearch/sort 0
  • blat 0
  • alr 0
  • sintax 0
  • clr 0
  • refflat 0
  • spa 0
  • groupby 0
  • usearch 0
  • dnamodelapply 0
  • genotype dosages 0
  • all versus all 0
  • coding 0
  • dnascope 0
  • remove samples 0
  • pangenome-scale 0
  • long read alignment 0
  • cds 0
  • transcroder 0
  • sequencing adapters 0
  • comp 0
  • helitron 0
  • bedgraphtobigwig 0
  • maf 0
  • predict 0
  • peak picking 0
  • haplotag 0
  • Illumina 0
  • functional 0
  • impute-info 0
  • tags 0
  • tag2tag 0
  • hashing-based deconvolution 0
  • host removal 0
  • rank 0
  • java 0
  • script 0
  • haploype 0
  • xml 0
  • svg 0
  • standard 0
  • staging 0
  • drug categorization 0
  • impute 0
  • Staging 0
  • reference compression 0
  • reference panel 0
  • microRNA 0
  • junction 0
  • multiqc 0
  • mass_error 0
  • search engine 0
  • poolseq 0
  • variant-calling 0
  • stardist 0
  • phylogenies 0
  • telseq 0
  • uniques 0
  • Read report 0
  • vsearch/fastqfilter 0
  • paraphase 0
  • cellsnp 0
  • trimfq 0
  • vcflib/vcffixup 0
  • AC/NS/AF 0
  • Pacbio 0
  • guidetree 0
  • bwamem2 0
  • bwameme 0
  • grabix 0
  • ribosomal 0
  • 10x 0
  • SNV 0
  • regulatory network 0
  • transcription factors 0
  • selector 0
  • Read trimming 0
  • sage 0
  • Read filters 0
  • nanoq 0
  • redundant 0
  • extraction 0
  • snippy 0
  • mass spectrometry 0
  • Indel 0
  • cram-size 0
  • orthogroup 0
  • spot 0
  • circular 0
  • realign 0
  • quality check 0
  • size 0
  • vsearch/dereplicate 0
  • hmmscan 0
  • genotype-based demultiplexing 0
  • import segmentation 0
  • paired reads re-pairing 0
  • fix 0
  • malformed 0
  • partitioning 0
  • chip 0
  • updatedata 0
  • subsetting 0
  • run 0
  • logFC 0
  • significance statistic 0
  • pdb 0
  • p-value 0
  • scvi 0
  • solo 0
  • nuclear segmentation 0
  • doublet_detection 0
  • cell segmentation 0
  • block substitutions 0
  • relabel 0
  • resegment 0
  • morphology 0
  • decomposeblocksub 0
  • identity-by-descent 0
  • metagenome assembler 0
  • mgi 0
  • scanpy 0
  • plotting 0
  • regtools 0
  • leafcutter 0
  • recovery 0
  • barcodes 0
  • regex 0
  • hmmpress 0
  • bclconvert 0
  • fastqfilter 0
  • ATACseq 0
  • shift 0
  • ATACshift 0
  • hhsuite 0
  • 16S 0
  • CRISPRi 0
  • setgt 0
  • jvarkit 0
  • translate 0
  • tar 0
  • tarball 0
  • targz 0
  • taxonomic composition 0
  • mzML 0
  • patterns 0
  • emoji 0
  • doublet 0
  • Immune Deconvolution 0
  • Bioinformatics Tools 0
  • Computational Immunology 0
  • catpack 0
  • quality_control 0
  • source tracking 0
  • nucBed 0
  • controlstatistics 0
  • elprep 0
  • prepare 0
  • elfasta 0
  • nucleotide content 0
  • AT content 0
  • donor deconvolution 0
  • lexogen 0
  • vcf file 0
  • parquet 0
  • genotypegvcf 0
  • homozygous genotypes 0
  • heterozygous genotypes 0
  • inbreeding 0
  • parallel 0
  • plastid 0
  • covariance model 0
  • dereplication 0
  • resfinder 0
  • resistance genes 0
  • microbial genomics 0
  • raw 0
  • mgf 0
  • parser 0
  • f coefficient 0
  • dbsnp 0
  • drep 0
  • agat 0
  • quarto 0
  • python 0
  • r 0
  • coexpression 0
  • correlation 0
  • corpcor 0
  • assay 0
  • phylogenetics 0
  • minimum_evolution 0
  • distance-based 0
  • joint-genotyping 0
  • install 0
  • homologs 0
  • bam2fastq 0
  • bgen file 0
  • site frequency spectrum 0
  • ancestral alleles 0
  • derived alleles 0
  • plink2_pca 0
  • tnfilter 0
  • array_cgh 0
  • cytosure 0
  • vector 0
  • gprofiler2 0
  • gost 0
  • rad 0
  • bam2fastx 0
  • immcantation 0
  • introns 0
  • mutect 0
  • gaps 0
  • linkage equilibrium 0
  • transform 0
  • pruning 0
  • pca 0
  • idx 0
  • deep variant 0
  • airrseq 0
  • comparative genomics 0
  • spectral clustering 0
  • sequence similarity 0
  • homology 0
  • co-orthology 0
  • immunoinformatics 0
  • nucleotide sequence 0
  • longest 0
  • droplet based single cells 0
  • translation 0
  • mygene 0
  • intron 0
  • masking 0
  • go 0
  • pile up 0
  • low-complexity 0
  • GFF/GTF 0
  • trio binning 0
  • nanopore sequencing 0
  • rna velocity 0
  • cobra 0
  • extension 0
  • grea 0
  • functional enrichment 0
  • paired reads merging 0
  • cell_barcodes 0
  • coreutils 0
  • busco 0
  • InterProScan 0
  • MMseqs2 0
  • retrieval 0
  • transposable element 0
  • generic 0
  • gnu 0
  • tandem repeats 0
  • hashing-based deconvoltion 0
  • hamming-distance 0
  • shuffleBed 0
  • long read 0
  • check 0
  • overlap-based merging 0
  • short 0
  • tag 0
  • multi-tool 0
  • cell_phenotyping 0
  • isoform 0
  • hardy-weinberg 0
  • hwe statistics 0
  • hwe equilibrium 0
  • reference-independent 0
  • variancepartition 0
  • genotype likelihood 0
  • collapse 0
  • liftover 0
  • dream 0
  • probabilistic realignment 0
  • seqfu 0
  • n50 0
  • cell_type_identification 0
  • machine_learning 0
  • prior knowledge 0
  • nm 0
  • biological activity 0
  • uq 0
  • omics 0
  • structural-variants 0
  • scimap 0
  • spatial_neighborhoods 0
  • md 0
  • associations 0
  • case/control 0
  • GWAS 0
  • association 0
  • refresh 0
  • clahe 0
  • featuretable 0
  • cumulative coverage 0
  • core 0
  • getpileupsummaries 0
  • short variant discovery 0
  • combinegvcfs 0
  • collectreadcounts 0
  • cnnscorevariants 0
  • calibratedragstrmodel 0
  • cross-samplecontamination 0
  • dragstr 0
  • calculatecontamination 0
  • bedtointervallist 0
  • asereadcounter 0
  • vqsr 0
  • variant quality score recalibration 0
  • annotateintervals 0
  • composestrtablefile 0
  • condensedepthevidence 0
  • heattree 0
  • gatherbqsrreports 0
  • germlinecnvcaller 0
  • germline contig ploidy 0
  • panelofnormalscreation 0
  • jointgenotyping 0
  • genomicsdbimport 0
  • genomicsdb 0
  • tranche filtering 0
  • createsequencedictionary 0
  • filtervarianttranches 0
  • filterintervals 0
  • estimatelibrarycomplexity 0
  • duplication metrics 0
  • determinegermlinecontigploidy 0
  • createsomaticpanelofnormals 0
  • targets 0
  • gangstr 0
  • getpileupsumaries 0
  • antibiotic resistance genes 0
  • consensus sequence 0
  • public 0
  • ENA 0
  • SRA 0
  • ANI 0
  • ARGs 0
  • faqcs 0
  • groupreads 0
  • str 0
  • percent on target 0
  • endogenous DNA 0
  • Streptococcus pyogenes 0
  • swissprot 0
  • duplexumi 0
  • unmapped 0
  • gene-calling 0
  • variant caller 0
  • gamma 0
  • UShER 0
  • bootstrapping 0
  • bacterial variant calling 0
  • germline variant calling 0
  • somatic variant calling 0
  • rust 0
  • ubam 0
  • fq 0
  • lint 0
  • random 0
  • generate 0
  • single molecule 0
  • zipperbams 0
  • germlinevariantsites 0
  • readcountssummary 0
  • embl 0
  • Haplotypes 0
  • tama_collapse.py 0
  • genomes on a tree 0
  • merge compare 0
  • GNU 0
  • joint-variant-calling 0
  • Imputation 0
  • Sample 0
  • TAMA 0
  • low coverage 0
  • gget 0
  • genome statistics 0
  • genome manipulation 0
  • genome summary 0
  • gfastats 0
  • gene model 0
  • gstama/merge 0
  • Salmonella Typhi 0
  • extractvariants 0
  • hbd 0
  • ibd 0
  • rgi 0
  • fARGene 0
  • amrfinderplus 0
  • abricate 0
  • extract_variants 0
  • gstama/polyacleanup 0
  • gvcftools 0
  • gunzip 0
  • gunc 0
  • archaea 0
  • genome taxonomy database 0
  • GTDB taxonomy 0
  • Mykrobe 0
  • repeat content 0
  • indexfeaturefile 0
  • preprocessintervals 0
  • shiftchain 0
  • selectvariants 0
  • revert 0
  • reblockgvcf 0
  • printreads 0
  • postprocessgermlinecnvcalls 0
  • shiftintervals 0
  • snvs 0
  • mutectstats 0
  • mergebamalignment 0
  • leftalignandtrimvariants 0
  • readorientationartifacts 0
  • learnreadorientationmodel 0
  • shiftfasta 0
  • site depth 0
  • genome heterozygosity 0
  • txt 0
  • genome size 0
  • models 0
  • compound 0
  • genome profile 0
  • bgc 0
  • file parsing 0
  • gawk 0
  • splitcram 0
  • variantrecalibrator 0
  • recalibration model 0
  • variantfiltration 0
  • splitintervals 0
  • genbank 0
  • split by chromosome 0
  • mitochondrial 0
  • illumiation_correction 0
  • BCF 0
  • csi 0
  • deduping 0
  • smaller fastqs 0
  • clumping fastqs 0
  • background_correction 0
  • element 0
  • biallelic 0
  • trimBam 0
  • bamUtil 0
  • bamtools/split 0
  • yaml 0
  • bamtools/convert 0
  • mouse 0
  • update header 0
  • homozygosity 0
  • virulent 0
  • chunking 0
  • subtract 0
  • slopBed 0
  • shiftBed 0
  • multinterval 0
  • overlapped bed 0
  • maskfasta 0
  • jaccard 0
  • autozygosity 0
  • overlap 0
  • getfasta 0
  • genomecov 0
  • closest 0
  • bamtobed 0
  • sorting 0
  • bacphlip 0
  • temperate 0
  • bioawk 0
  • amp 0
  • allele counts 0
  • nuclear contamination estimate 0
  • post Post-processing 0
  • model 0
  • AMPs 0
  • antimicrobial peptide prediction 0
  • Staphylococcus aureus 0
  • affy 0
  • reference panels 0
  • admixture 0
  • adapterremoval 0
  • antimicrobial reistance 0
  • contiguate 0
  • doCounts 0
  • HLA 0
  • lifestyle 0
  • read group 0
  • autofluorescence 0
  • cycif 0
  • background 0
  • single-stranded 0
  • ancientDNA 0
  • authentict 0
  • bias 0
  • utility 0
  • ATLAS 0
  • sequencing_bias 0
  • post mortem damage 0
  • atlas 0
  • mkarv 0
  • http(s) 0
  • unionBedGraphs 0
  • file manipulation 0
  • deletion 0
  • TMA dearray 0
  • gct 0
  • cls 0
  • na 0
  • custom 0
  • Cores 0
  • Segmentation 0
  • UNet 0
  • pcr duplicates 0
  • mcool 0
  • genomic bins 0
  • makebins 0
  • enzyme 0
  • digest 0
  • cload 0
  • cutesv 0
  • paired-end 0
  • subcontigs 0
  • escherichia coli 0
  • circos 0
  • eklipse 0
  • eigenstratdatabasetools 0
  • pep 0
  • schema 0
  • PEP 0
  • track 0
  • segment 0
  • blastx 0
  • scatterplot 0
  • corrrelation 0
  • cooler/balance 0
  • nucleotide composition 0
  • sorted 0
  • compartments 0
  • multiomics 0
  • mkvdjref 0
  • cellpose 0
  • hifi 0
  • Assembly 0
  • domains 0
  • topology 0
  • antibody capture 0
  • calder2 0
  • cadd 0
  • postprocessing 0
  • tblastn 0
  • subtyping 0
  • Salmonella enterica 0
  • antigen capture 0
  • crispr 0
  • concoct 0
  • protein coding genes 0
  • partition histograms 0
  • target 0
  • export 0
  • antitarget 0
  • access 0
  • cmseq 0
  • polymorphic sites 0
  • qa 0
  • polymorphic 0
  • polymut 0
  • chromosome_visualization 0
  • duplicate removal 0
  • chromap 0
  • quality assurnce 0
  • beagle 0
  • Haemophilus influenzae 0
  • sniffles 0
  • gene finding 0
  • haplotype purging 0
  • cutoff 0
  • panel of normals 0
  • normal database 0
  • genomic intervals 0
  • intervals coverage 0
  • contact maps 0
  • false duplications 0
  • bmp 0
  • jpg 0
  • pretext 0
  • contact 0
  • porechop_abi 0
  • pmdtools 0
  • duplicate purging 0
  • assembly curation 0
  • scoring 0
  • rhocall 0
  • fragment_size 0
  • read_pairs 0
  • experiment 0
  • strandedness 0
  • bamstat 0
  • R 0
  • long uncorrected reads 0
  • Haplotype purging 0
  • subsampling 0
  • neighbour-joining 0
  • quast 0
  • purging 0
  • Assembly curation 0
  • False duplications 0
  • variant genetic 0
  • identifiers 0
  • read distribution 0
  • hybrid-selection 0
  • sortvcf 0
  • picard/renamesampleinvcf 0
  • pcr 0
  • liftovervcf 0
  • mate-pair 0
  • phylogenetic composition 0
  • illumina datasets 0
  • identification 0
  • prophage 0
  • phantom peaks 0
  • ChIP-Seq 0
  • motif 0
  • CoPRO 0
  • whole genome association 0
  • GRO-seq 0
  • recode 0
  • indep pairwise 0
  • indep 0
  • variant identifiers 0
  • exclude 0
  • genetic 0
  • PRO-seq 0
  • GRO-cap 0
  • STRIPE-seq 0
  • csRNA-seq 0
  • RAMPAGE 0
  • NETCAGE 0
  • CAGE 0
  • PRO-cap 0
  • inner_distance 0
  • sequence-based 0
  • read 0
  • pseudohaploid 0
  • sex determination 0
  • induce 0
  • gc_wiggle 0
  • bam2seqz 0
  • freqsum 0
  • pseudodiploid 0
  • random draw 0
  • relative coverage 0
  • selection 0
  • seq 0
  • header 0
  • interleave 0
  • sertotype 0
  • sequence headers 0
  • genetic sex 0
  • rare variants 0
  • subseq 0
  • density 0
  • POA 0
  • SMN2 0
  • SMN1 0
  • CRAM 0
  • sliding window 0
  • features 0
  • boxplot 0
  • error 0
  • exploratory 0
  • shinyngs 0
  • 256 bit 0
  • sha256 0
  • longread 0
  • de-novo 0
  • grep 0
  • variant recalibration 0
  • mapping-based 0
  • LCA 0
  • amplicon 0
  • duplicate marking 0
  • sambamba 0
  • flagstat 0
  • multimapper 0
  • Ancestor 0
  • salsa2 0
  • calmd 0
  • salsa 0
  • rtg-tools 0
  • rocplot 0
  • pedfilter 0
  • rtg 0
  • integrity 0
  • ampliconclip 0
  • faidx 0
  • VQSR 0
  • peak-caller 0
  • applyvarcal 0
  • assembly-binning 0
  • seacr 0
  • chromatin 0
  • cut&run 0
  • cut&tag 0
  • clusteridentifier 0
  • insert size 0
  • cluster analysis 0
  • scramble 0
  • readgroup 0
  • read pairs 0
  • paired 0
  • repair 0
  • pedigrees 0
  • pair-end 0
  • haplotype resolution 0
  • legionella 0
  • lofreq/filter 0
  • lofreq/call 0
  • Listeria monocytogenes 0
  • limma 0
  • pneumophila 0
  • clinical 0
  • collapsing 0
  • AMP 0
  • adapter removal 0
  • train 0
  • spliced 0
  • reorder 0
  • combining 0
  • kofamscan 0
  • qualities 0
  • peptide prediction 0
  • pneumoniae 0
  • estimate 0
  • metagenome-assembled genomes 0
  • maxbin2 0
  • representations 0
  • reduced 0
  • mash/sketch 0
  • taxonomic assignment 0
  • damage patterns 0
  • functional genomics 0
  • NGS 0
  • DNA damage 0
  • rra 0
  • maximum-likelihood 0
  • CRISPR-Cas9 0
  • sgRNA 0
  • kegg 0
  • Klebsiella 0
  • mcr-1 0
  • pos 0
  • js 0
  • igv.js 0
  • igv 0
  • IDR 0
  • panel_of_normals 0
  • haemophilus 0
  • annotations 0
  • multicut 0
  • hmtnote 0
  • Hidden Markov Model 0
  • amino acid 0
  • HMMER 0
  • readcounter 0
  • gccounter 0
  • genome browser 0
  • pixel classification 0
  • effective genome size 0
  • Jupyter 0
  • k-mer counting 0
  • digital normalization 0
  • quant 0
  • kallisto/index 0
  • papermill 0
  • jupytext 0
  • Python 0
  • pixel_classification 0
  • insertion 0
  • genomic islands 0
  • interproscan 0
  • probability_maps 0
  • mass-spectroscopy 0
  • MD5 0
  • pbp 0
  • squeeze 0
  • graph viz 0
  • graph formats 0
  • graph unchopping 0
  • graph stats 0
  • combine graphs 0
  • odgi 0
  • graph drawing 0
  • hla-typing 0
  • graph construction 0
  • gender 0
  • Neisseria gonorrhoeae 0
  • ngm 0
  • NextGenMap 0
  • sequencing summary 0
  • tumor/normal 0
  • ILP 0
  • restriction fragments 0
  • subreads 0
  • pbmerge 0
  • pbbam 0
  • select 0
  • pairstools 0
  • HLA-I 0
  • pairtools 0
  • ligation junctions 0
  • upper-triangular matrix 0
  • flip 0
  • PCR/optical duplicates 0
  • block-compressed 0
  • 128 bit 0
  • contour map 0
  • methylation bias 0
  • metaphlan 0
  • unionsum 0
  • ploidy 0
  • smudgeplot 0
  • Merqury 0
  • 3D heat map 0
  • assembler 0
  • Neisseria meningitidis 0
  • rma6 0
  • daa 0
  • debruijn 0
  • denovo 0
  • megahit 0
  • mbias 0
  • de Bruijn 0
  • contaminant 0
  • mtnucratio 0
  • SNP table 0
  • GATK UnifiedGenotyper 0
  • Beautiful stand-alone HTML report 0
  • bioinformatics tools 0
  • mitochondrial to nuclear ratio 0
  • ratio 0
  • scan 0
  • microrna 0
  • microsatellite instability 0
  • otu table 0
  • mosdepth 0
  • reference genome 0
  • mitochondrial genome 0
  • target prediction 0
  • genome annotation 0

Annotation and Ranking of Structural Variation

012301010101

tsv unannotated_tsv vcf versions

annotsv:

Annotation and Ranking of Structural Variation

Install the AnnotSV annotations

NO input

annotations versions

annotsv:

Annotation and Ranking of Structural Variation

Call structural variants

0123450101

bcf csi versions

delly:

Structural variant discovery by integrated paired-end and split-read analysis

SV callers like lumpy look at split-reads and pair distances to find structural variants. This tool is a fast way to add depth information to those calls. This can be used as additional information for filtering variants; for example we will be skeptical of deletion calls that do not have lower than average coverage compared to regions with similar gc-content.

01234500

vcf versions

Dysgu calls structural variants (SVs) from mapped sequencing reads. It is designed for accurate and efficient detection of structural variations.

012012

vcf tbi versions

Ensembl Variant Effect Predictor (VEP). The cache downloading options are controlled through task.ext.args.

0123

cache versions

ensemblvep:

VEP determines the effect of your variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions.

Filter variants based on Ensembl Variant Effect Predictor (VEP) annotations.

010

output versions

ensemblvep:

VEP determines the effect of your variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions.

Ensembl Variant Effect Predictor (VEP). The output-file-format is controlled through task.ext.args.

0120000010

vcf tbi tab json report versions

ensemblvep:

VEP determines the effect of your variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions.

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.

01234000

split_read_evidence split_read_evidence_index paired_end_evidence paired_end_evidence_index site_depths site_depths_index versions

gatk4:

Genome Analysis Toolkit (GATK4)

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.

0120000

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.

Adds predicted functional consequence, gene overlap, and noncoding element overlap annotations to SV VCF from GATK-SV pipeline. Input files are an SV VCF, a GTF file containing primary or canonical transcripts, and a BED file containing noncoding elements. Output file is an annotated SV VCF.

0123000

annotated_vcf index versions

gatk4:

Genome Analysis Toolkit (GATK4)

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

0120000

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.

GRIDSS is a module software suite containing tools useful for the detection of genomic rearrangements.

0123010101

bedpe bed versions

gridss:

GRIDSS: the Genomic Rearrangement IDentification Software Suite

GRIDSS is a module software suite containing tools useful for the detection of genomic rearrangements.

01010101

vcf versions

gridss:

GRIDSS: the Genomic Rearrangement IDentification Software Suite

GRIDSS is a module software suite containing tools useful for the detection of genomic rearrangements.

0123010101

bedpe bed versions

gridss:

GRIDSS: the Genomic Rearrangement IDentification Software Suite

GRIDSS is a module software suite containing tools useful for the detection of genomic rearrangements.

0101

high_conf_sv all_sv versions

gridss:

GRIDSS: the Genomic Rearrangement IDentification Software Suite

GRIDSS is a module software suite containing tools useful for the detection of genomic rearrangements.

0101

high_conf_sv all_sv versions

gridss:

GRIDSS: the Genomic Rearrangement IDentification Software Suite

pacbio structural variant calling tool

01201201

vcf csv versions

Jointly Accurate Sv Merging with Intersample Network Edges

012301010

vcf versions

Manta calls structural variants (SVs) and indels from mapped paired-end sequencing reads. This script reformats inversions into single inverted sequence junctions which was the format used in Manta versions <= 1.4.0.

0101

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 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

Parse all the supporting reads of putative somatic SVs using nanomonsv. After successful completion, you will find supporting reads stratified by deletions, insertions, and rearrangements. A precursor to "nanomonsv get"

012

insertions insertions_index deletions deletions_index rearrangements rearrangements_index bp_info bp_info_index versions

nanomonsv:

nanomonsv is a software for detecting somatic structural variations from paired (tumor and matched control) cancer genome sequence data.

Determines the depth in a BAM/CRAM file

0120101

depth binned_depth versions

paragraph:

Graph realignment tools for structural variants

Genotype structural variants using paragraph and grmpy

0123450101

vcf json versions

paragraph:

Graph realignment tools for structural variants

Convert a VCF file to a JSON graph

0101

graph versions

paragraph:

Graph realignment tools for structural variants

pbsv/call - PacBio structural variant (SV) calling and analysis tools

0101

vcf versions

pbsv:

pbsv - PacBio structural variant (SV) calling and analysis tools

pbsv - PacBio structural variant (SV) signature discovery tool

0101

svsig versions

pbsv:

pbsv - PacBio structural variant (SV) calling and analysis tools

Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants at single-based resolution from next-gen sequence data

012000

bp cem del dd int_final inv li rp si td versions

pindel:

Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants at single-based resolution from next-gen sequence data

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

01230101

vcf versions

smoove:

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

Converts a bedpe file to a VCF file (beta version)

01

vcf versions

survivor:

Toolset for SV simulation, comparison and filtering

Filter a vcf file based on size and/or regions to ignore

0120000

vcf versions

survivor:

Toolset for SV simulation, comparison and filtering

Compare or merge VCF files to generate a consensus or multi sample VCF files.

01000000

vcf versions

survivor:

Toolset for SV simulation, comparison and filtering

Simulate an SV VCF file based on a reference genome

01010100

parameters vcf bed fasta insertions versions

survivor:

Toolset for SV simulation, comparison and filtering

Report multiple stats over a VCF file

01000

stats versions

survivor:

Toolset for SV simulation, comparison and filtering

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

01234010101010101

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

SVbenchmark compares a set of โ€œtestโ€ structural variants in VCF format to a known truth set (also in VCF format) and outputs estimates of sensitivity and specificity.

0123450101

fns fps distances log report versions

svanalyzer:

SVanalyzer: tools for the analysis of structural variation in genomes

Build a structural variant database

010

db versions

svdb:

structural variant database software

The merge module merges structural variants within one or more vcf files.

0100

vcf tbi csi versions

svdb:

structural variant database software

Query a structural variant database, using a vcf file as query

01000000

vcf versions

svdb:

structural variant database software

Performs tests on BAF files

01234

metrics versions

svtk:

Utilities for consolidating, filtering, resolving, and annotating structural variants.

Count the instances of each SVTYPE observed in each sample in a VCF.

01

counts versions

svtk:

Utilities for consolidating, filtering, resolving, and annotating structural variants.

Convert an RdTest-formatted bed to the standard VCF format.

0120

vcf tbi versions

svtk:

Utilities for consolidating, filtering, resolving, and annotating structural variants.

Convert SV calls to a standardized format.

010

standardized_vcf versions

svtk:

Utilities for consolidating, filtering, resolving, and annotating structural variants.

Converts VCFs containing structural variants to BED format

012

bed versions

svtk:

Utilities for consolidating, filtering, resolving, and annotating structural variants.

Convert a VCF file to a BEDPE file.

01

bedpe versions

svtools:

Tools for processing and analyzing structural variants

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

01230101

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

012301

gt_vcf json versions

svtyper:

Bayesian genotyper for structural variants

A tool to standardize VCF files from structural variant callers

0123

vcf tbi versions

Computes the coverage of different regions from the bam file.

0101

cov wig versions

tiddit:

TIDDIT - structural variant calling.

Identify chromosomal rearrangements.

0120101

vcf ploidy versions

sv:

Search for structural variants.

Given baseline and comparison sets of variants, calculate the recall/precision/f-measure

0123450101

fn_vcf fn_tbi fp_vcf fp_tbi tp_base_vcf tp_base_tbi tp_comp_vcf tp_comp_tbi summary versions

truvari:

Structural variant comparison tool for VCFs

Over multiple vcfs, calculate their intersection/consistency.

01

consistency versions

truvari:

Structural variant comparison tool for VCFs

Normalization of SVs into disjointed genomic regions

01

vcf versions

truvari:

Structural variant comparison tool for VCFs

In order to judge about candidate indel and structural variants, Varlociraptor needs to know about certain properties of the underlying sequencing experiment in combination with the used read aligner.

010101

alignment_properties_json versions

varlociraptor:

Flexible, uncertainty-aware variant calling with parameter free filtration via FDR control.

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

01230101

graph versions

vg:

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

The wham suite consists of two programs, wham and whamg. wham, the original tool, is a very sensitive method with a high false discovery rate. The second program, whamg, is more accurate and better suited for general structural variant (SV) discovery.

01200

vcf tbi graph versions

Click here to trigger an update.