Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, HVolume:
10
Language:
english
Journal:
Genome Medicine
DOI:
10.1186/s13073-018-0606-6
Date:
December, 2018
File:
PDF, 856 KB
english, 2018