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

doi:10.1073/pnas.1615800113

Article

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

Proceedings of the National Academy of Sciences of the United States of America - 13 Dec 2016

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

Abstract excerpt

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 positive predictive value of 74%. These results represent a 169-fold improvement in the positive predictive value...

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

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