diff --git a/README.md b/README.md index 896fcf285..33310bad4 100644 --- a/README.md +++ b/README.md @@ -67,25 +67,60 @@ For a full list of available tools please see the [tools section](http://fulcrum Below we highlight a few tools that you may find useful. -* Tools for working with Unique Molecular Indexes (UMIs, aka Molecular IDs or MIDs). - * Annotating/Extract Umis from read-level data: `AnnotateBamWithUmis` and `ExtractUmisFromBam`. - * Tools to manipulate read-level data containing Umis: `CorrectUmis`, `GroupReadsByUmi`, `CallMolecularConsensusReads` and `CallDuplexConsensusReads` -* Tools to manipulate read-level data: - * FastqManipulation: `DemuxFastqs` and `FastqToBam` - * Filter read-level data: `FilterBam`. - * Clipping of reads: `ClipBam`. - * Randomize the order of read-level data: `RandomizeBam`. - * Update read-level metadata: `SetMateInformation` and `UpdateReadGroups`. -* Quality assessment tools: - * Detailed substitution error rate evaluation: `ErrorRateByReadPosition` - * Sample pooling QC: `EstimatePoolingFractions` - * Splice-aware insert size QC for RNA-seq libraries: `EstimateRnaSeqInsertSize` - * Assessment of duplex sequencing experiments: `CollectDuplexSeqMetrics` -* Miscellaneous tools: - * Pick molecular indices (ex. sample barcodes, or molecular indexes): `PickIlluminaIndices` and `PickLongIndices`. - * Convert the output of HAPCUT (a tool for phasing variants): `HapCutToVcf`. - * Find technical or synthetic sequences in read-level data: `FindTechnicalReads`. - * Assess phased variant calls: `AssessPhasing`. +- Tools for working with Unique Molecular Indexes (UMIs, aka Molecular IDs or Molecular Barcodes): + - Annotate/Extract Umis from read-level data: [`FastqToBam`][fgbio-fastqtobam-link], [`AnnotateBamWithUmis`][fgbio-annotatebamwithumis-link], [`ExtractUmisFromBam`][fgbio-extractumisfrombam-link], and [`CopyUmiFromReadName`][fgbio-copyumifromreadname-link]. + - Manipulate read-level data containing Umis: [`CorrectUmis`][fgbio-correctumis-link], [`GroupReadsByUmi`][fgbio-groupreadsbyumi-link], [`CallMolecularConsensusReads`][fgbio-callmolecularconsensusreads-link], [`CallDuplexConsensusReads`][fgbio-callduplexconsensusreads-link], and [`FilterConsensusReads`][fgbio-filterconsensusreads-link]. + - Collect metrics and review consensus reads: [`CollectDuplexSeqMetrics`][fgbio-collectduplexseqmetrics-link] and [`ReviewConsensusVariants`][fgbio-reviewconsensusvariants-link]. +- Tools to manipulate read-level data: + - Fastq Manipulation: [`FastqToBam`][fgbio-fastqtobam-link], [`ZipperBams`][fgbio-zipperbams-link], and [`DemuxFastqs`][fgbio-demuxfastqs-link] (see `[fqtk`][fqtk-link], our rust re-implementation for sample demultiplexing). + - Filter, clip, randomize, sort, and update metadata for read-level data: [`FilterBam`][fgbio-filterbam-link], [`ClipBam`][fgbio-clipbam-link], [`RandomizeBam`][fgbio-randomizebam-link], [`SortBam`][fgbio-sortbam-link], [`SetMateInformation`][fgbio-setmateinformation-link] and [`UpdateReadGroups`][fgbio-updatereadgroups-link]. +- Tools for quality control assessment: + - Detailed substitution error rate evaluation: [`ErrorRateByReadPosition`][fgbio-errorratebyreadposition-link]. + - Sample pooling QC: [`EstimatePoolingFractions`]: [fgbio-estimatepoolingfractions-link]. + - Splice-aware insert size QC for RNA-seq libraries: [`EstimateRnaSeqInsertSize`][fgbio-estimaternaseqinsertsize-link]. +- Tools for adding or manipulating alternate contig names: + - Extract contig names from an NCBI Assembly Report: [`CollectAlternateContigNames`][fgbio-collectalternatecontignames-link]. + - Update contig names in common file formats: [`UpdateFastaContigNames`][fgbio-updatefastacontignames-link], [`UpdateVcfContigNames`][fgbio-updatevcfcontignames-link], [`UpdateGffContigNames`][fgbio-updategffcontignames-link], [`UpdateIntervalListContigNames`][fgbio-updateintervallistcontignames-link], [`UpdateDelimitedFileContigNames`][fgbio-updatedelimitedfilecontignames-link]. +- Miscellaneous tools: + - Pick molecular indices (ex. sample barcodes, or molecular indexes): [`PickIlluminaIndices`][fgbio-pickilluminaindices-link] and [`PickLongIndices`][fgbio-picklongindices-link]. + - Find technical/synthetic, or switch-back sequences in read-level data: [`FindTechnicalReads`][fgbio-findtechnicalreads-link] and [`FindSwitchbackReads`][fgbio-findswitchbackreads-link]. + - Make synthetic mixture VCFs: [`MakeMixtureVcf`][fgbio-makemixturevcf-link] and [`MakeTwoSampleMixtureVcf`][fgbio-maketwosamplemixturevcf-link]. + +[fgbio-fastqtobam-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/FastqToBam.html +[fgbio-annotatebamwithumis-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/AnnotateBamWithUmis.html +[fgbio-extractumisfrombam-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/ExtractUmisFromBam.html +[fgbio-copyumifromreadname-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/CopyUmiFromReadName.html +[fgbio-correctumis-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/CorrectUmis.html +[fgbio-groupreadsbyumi-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/GroupReadsByUmi.html +[fgbio-callmolecularconsensusreads-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/CallMolecularConsensusReads.html +[fgbio-callduplexconsensusreads-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/CallDuplexConsensusReads.html +[fgbio-filterconsensusreads-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/FilterConsensusReads.html +[fgbio-collectduplexseqmetrics-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/CollectDuplexSeqMetrics.html +[fgbio-reviewconsensusvariants-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/ReviewConsensusVariants.html +[fgbio-fastqtobam-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/FastqToBam.html +[fgbio-zipperbams-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/ZipperBams.html +[fgbio-demuxfastqs-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/DemuxFastqs.html +[fgbio-filterbam-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/FilterBam.html +[fgbio-clipbam-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/ClipBam.html +[fgbio-randomizebam-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/RandomizeBam.html +[fgbio-setmateinformation-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/SetMateInformation.html +[fgbio-updatereadgroups-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/UpdateReadGroups.html +[fgbio-collectalternatecontignames-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/CollectAlternateContigNames.html +[fgbio-updatefastacontignames-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/UpdateFastaContigNames.html +[fgbio-updatevcfcontignames-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/UpdateVcfContigNames.html +[fgbio-updategffcontignames-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/UpdateGffContigNames.html +[fgbio-updateintervallistcontignames-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/UpdateIntervalListContigNames.html +[fgbio-updatedelimitedfilecontignames-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/UpdateDelimitedFileContigNames.html +[fgbio-errorratebyreadposition-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/ErrorRateByReadPosition.html +[fgbio-estimatepoolingfractions-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/EstimatePoolingFractions.html +[fgbio-estimaternaseqinsertsize-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/EstimateRnaSeqInsertSize.html +[fgbio-pickilluminaindices-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/PickIlluminaIndices.html +[fgbio-picklongindices-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/PickLongIndices.html +[fgbio-findtechnicalreads-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/FastqToBam.html +[fgbio-sortbam-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/SortBam.html +[fgbio-makemixturevcf-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/MakeMixtureVcf.html +[fgbio-maketwosamplemixturevcf-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/MakeTwoSampleMixtureVcf.html +[fgbio-findswitchbackreads-link]: https://fulcrumgenomics.github.io/fgbio/tools/latest/FindSwitchbackReads.html ## Building ### Cloning the Repository