LINX

Cyrius — CYP2D6 star allele genotyping from whole-genome sequencing data. Call CYP2D6 diplotypes (*1/*2, *4/*5) from BAM/CRAM files for pharmacogenomics clinical reporting. Handles CYP2D6/CYP2D7 fusio

2 shared topics • 3 shared operations

Maftools — R package for analyzing somatic mutations from cancer sequencing (MAF files). Provides oncoplots for mutation visualization, clonality analysis, tumor burden estimation, mutational signatur

2 shared topics • 3 shared operations

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