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, Helen ; Erwood, Marie ; Grozeva, Detelina ; Stefanucci, Luca ; Arno, Gavin ; Webster, Andrew R ; Cole, Trevor ; Austin, Topun ; Branco, Ricardo Garcia ; Ouwehand, Willem H ; Raymond, F Lucy ; Carss, Keren J

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95 [Peer Reviewed Journal]

England: BioMed Central Ltd

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