Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing

Currently, the methods available for preimplantation genetic diagnosis (PGD) of in vitro fertilized (IVF) embryos do not detect de novo single-nucleotide and short indel mutations, which have been shown to cause a large fraction of genetic diseases. Detection of all these types of mutations requires...

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Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Peters, Brock A., Kermani, Bahram G., Alferov, Oleg, Agarwal, Misha R., McElwain, Mark A., Gulbahce, Natali, Hayden, Daniel M., Tang, Y. Tom, Zhang, Rebecca Yu, Tearle, Rick, Crain, Birgit, Prates, Renata, Berkeley, Alan, Munné, Santiago, Drmanac, Radoje
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2015
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352880/
https://ncbi.nlm.nih.gov/pubmed/25672852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.181255.114
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