New tool to help harness human pangenome diversity for clinical interpretation of variants

Researchers from GeneDx have published a paper titled “Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes” in Nature Methods. The work details research in which the researchers developed a new computational tool, the PanGenome Research-Tool Kit (PGR-TK), for scalable analysis of clinically relevant genes that were previously too complex to analyze.