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

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 and invest...

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Vydáno v:Genome Med
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6286558/
https://ncbi.nlm.nih.gov/pubmed/30526634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-018-0606-6
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