Cyrius

LINX — structural variant annotation and visualization tool from the Hartwig Medical Foundation hmftools suite. Interprets structural variants and copy number data to classify driver events including

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