Get the current Genome version as a DMG for macOS.

FASTQ/BAM/CRAM, HLA, pharmacogenetics, LPA/KILDA, repeats, SNP search and microarray exports.

Quick start, workflow, data management, conversion, analysis, SNP search, tools, references, reports and troubleshooting.

HLA*LA, T1K HLA/KIR, KILDA/LPA, Aldy4, ExpansionHunter, EBV, microarray and PGS Catalog as separate Genome analysis areas.

Core tools and specialist tools: fastp, bwa-mem2, samtools, bcftools, GATK, HLA*LA, T1K, KILDA, Aldy4, ExpansionHunter and Haplogrep3.

Manage GRCh38/hs38d1, the HLA*LA graph, IPD-KIR, T1K references, ClinVar, dbSNP, PGS Catalog and microarray panels locally.

PDF reports for medical genomics and pharmacogenetics with evidence, warnings, tool versions, references and provenance.

23andMe, AncestryDNA, GEDmatch, CombinedKit and rsID lookup in your own genotype data.

Versions, changes and release notes for Genome and PJ Labs.

Native tools at the intersection of genome data, bioinformatics and software design.