Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends

Plasma DNA obtained from a pregnant woman was sequenced to a depth of 270× haploid genome coverage. Comparing the maternal plasma DNA sequencing data with the parental genomic DNA data and using a series of bioinformatics filters, fetal de novo mutations were detected at a sensitivity of 85% and a p...

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Bibliografiska uppgifter
I publikationen:Proc Natl Acad Sci U S A
Huvudupphovsmän: Chan, K. C. Allen, Jiang, Peiyong, Sun, Kun, Cheng, Yvonne K. Y., Tong, Yu K., Cheng, Suk Hang, Wong, Ada I. C., Hudecova, Irena, Leung, Tak Y., Chiu, Rossa W. K., Lo, Yuk Ming Dennis
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 2016
Ämnen:
PNAS Plus
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5167168/
https://ncbi.nlm.nih.gov/pubmed/27799561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1615800113
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