Genotyping Allele-Specific Copy Number Variants Using Pangenomes

Explore genotyping allele-specific copy number variants using pangenomes in this conference talk from the Computational Genomics Summer Institute (CGSI) 2023. Delve into cutting-edge research on human pangenome references and large multiallelic copy number variations in humans. Gain insights from related papers, including the draft human pangenome reference by Liao et al., copy number variations study by Handsaker et al., and high-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort by Byrska-Bishop et al. Learn about the latest advancements in genomic analysis and their implications for understanding human genetic diversity.

Mark Chaisson | Genotyping Allele specific Copy Number Variants Using Pangenomes | CGSI 2023