Personalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes (opens in new tab)

Cancer genome analysis relies on standard human reference genomes but detecting somatic alterations in highly repetitive or individual-specific regions remains challenging. We developed the Personalized Reference genome-based Cancer Genome Analysis Pipeline (PRCGAP), to our knowledge, the first comprehensive pipeline integrating haplotype-resolved analyses of somatic point mutations, structural variants, copy number, and DNA methylation on personalized diploid reference genomes. We applied PR...