Structural variant calling: the long and the short of it.

TitleStructural variant calling: the long and the short of it.
Publication TypeJournal Article
Year of Publication2019
AuthorsMahmoud, M, Gobet, N, Cruz-Dávalos, DIvette, Mounier, N, Dessimoz, C, Sedlazeck, FJ
JournalGenome Biol
Date Published2019 11 20

Recent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution-giving rise to the differences within populations and among species. Nevertheless, characterizing SVs and determining the optimal approach for a given experimental design remains a computational and scientific challenge. Multiple approaches have emerged to target various SV classes, zygosities, and size ranges. Here, we review these approaches with respect to their ability to infer SVs across the full spectrum of large, complex variations and present computational methods for each approach.

Alternate JournalGenome Biol.
PubMed ID31747936
Grant ListUM1 HG008898 / HG / NHGRI NIH HHS / United States