DPYD Tools

Use when working with PharmVar (Pharmacogene Variation Consortium) to access curated pharmacogenomics variant data for CYP2D6, CYP2C19, CYP2C9, CYP3A5, DPYD, SLCO1B1, and other clinically actionable p

3 shared topics • 1 shared operation

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

2 shared topics • 2 shared operations

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

2 shared topics • 2 shared operations

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

2 shared topics • 2 shared operations

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

2 shared topics • 2 shared operations