Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Abstract Background Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (WGS), resolve the precise variant configuration an...

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Bibliographic Details
Main Authors: Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss
Format: Article
Language:English
Published: BMC 2018-12-01
Series:Genome Medicine
Subjects:
Genome sequencing
Next-generation sequencing
Complex structural variant
Nanopore
ARID1B
HNRNPU
Online Access:http://link.springer.com/article/10.1186/s13073-018-0606-6

Internet

http://link.springer.com/article/10.1186/s13073-018-0606-6

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