HGSVC JAX PacBio Data

Identifying and cataloging the occurrence of structural variants (SVs)—including deletions, insertions, duplications, and inversions—in human chromosomes, comprehensive SV discovery in human chromosomes by combining multiple cutting-edge genome-analyzing technologies and computational tools to generate a novel SV reference set encompassing ethnically diverse populations, which will serve as a valuable resource to clinicians and researchers who investigate the causes of genetic diseases.