Rhtslib

Tools and workflows for accessing, querying, and analyzing data from the 1000 Genomes Project (1KGP) — the largest public catalog of human genetic variation with whole-genome sequences from 3,202 indi

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GATK (Genome Analysis Toolkit) — the industry-standard framework for variant discovery in high-throughput sequencing data. Covers the gatk command-line wrapper, Java/JVM tuning, resource bundle manage

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Nirvana — Clinical-grade genomic variant annotation tool by Illumina that processes VCF files and outputs structured JSON with transcript consequences, population frequencies, pathogenicity scores, an

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Sarek — nf-core Nextflow pipeline for germline and somatic variant calling from whole-genome sequencing (WGS), whole-exome sequencing (WES), and targeted sequencing data. Supports multiple variant cal

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SnpSift -- Java-based toolset for filtering, annotating, and manipulating annotated VCF files from SnpEff or other variant callers. Provides expression-based filtering (filter), database annotation wi

1 shared topic • 2 shared operations