Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.

Jeroen van den Akker¹, Lawrence Hon², Anjana Ondov², Ziga Mahkovec², Robert O'Connor², Raymond C Chan², Justin Lock², Anjali D Zimmer², Asha Rostamianfar², Jeremy Ginsberg², Annette Leon², Scott Topper²

¹Color Genomics, Burlingame, California. Electronic address: jeroen@color.com.

²Color Genomics, Burlingame, California.

PubMed DOI

Abstract

The relevance of large copy number variants (CNVs) to hereditary disorders has been long recognized, and population sequencing efforts have chronicled many common structural variants (SVs). However, limited data are available on the clinical contribution of rare germline SVs. Here, a detailed characterization of SVs identified using targeted next-generation sequencing was performed. Across 50 gene…

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