Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ.
Sanchis-Juan A, et al. Among authors: webster ar.
Genome Med. 2018 Dec 7;10(1):95. doi: 10.1186/s13073-018-0606-6.
Genome Med. 2018.
PMID: 30526634
Free PMC article.