Improving detection and interpretation of clinically relevant structural variation

Washington University, Saint Louis MO

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Abstract

Project Summary At present, funding for improving the human reference (U24 HG009081 and U41 HG00763504) has produced 2 haploid (hydatidiform moles) and 15 collapsed diploid human genomes using PacBio sequencing together with Bionano physical maps and 10X Genomics data. Efforts are currently underway to resolve these collapsed genomes into haplotype-resolved assemblies. The goal will be to generate a broader spectrum of human genetic variation with haplotype- resolved genomes. For this supplement, we propose to sample additional cell lines that will help to increase the human reference diversity through efforts at The McDonnell Genome Institute at Washington University, The University of Washington, and Nationwide Children?s Hospital.