PMC:6037202 / 3531-4550 JSONTXT

{"project":"2_test","denotations":[{"id":"29909963-28041643-2051590","span":{"begin":543,"end":544},"obj":"28041643"},{"id":"29909963-25827230-2051591","span":{"begin":546,"end":547},"obj":"25827230"},{"id":"29909963-25296578-2051592","span":{"begin":663,"end":664},"obj":"25296578"}],"text":"Clinical NGS assays for possible inherited cancer predisposition generally take the form of single-gene or multigene panels of CPGs, but genome-wide analysis through whole-exome sequencing (WES) or whole-genome sequencing (WGS) is also possible. Although more expensive than WES, WGS should provide the most comprehensive analysis because it (1) can effectively interrogate all coding and non-coding areas of the genome, (2) provides more uniform read coverage than WES, particularly in areas where target enrichment and capture are difficult,5, 6 and (3) is able to detect a wide range of structural variations, such as deletions, translocations, and inversions.7 However, WGS is still in its infancy as a clinical diagnostic tool, and few assessments of its application in hereditary cancer have appeared in the literature. In this study, we applied WGS to a large heterogeneous pre-assessed MPT cohort (460 individuals from 440 families) to investigate the potential role of comprehensive CPG analysis in this group."}