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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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Dades bibliogràfiques
Publicat a:Genome Res
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2015
Matèries:
Accés en línia: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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