ena-STUDY-THE JACKSON LABORATORY-08-12-2020-19:43:58:041-32
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.
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.