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


Date: 7th December 2018 | Source: Genome Medicine

Authors: Alba Sanchis-Juan, Jonathan Stephens, Courtney E French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Gavin Arno, Andrew R Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, NIHR BioResource, Willem H Ouwehand, F Lucy Raymond, Keren J Carss.

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