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Article

Noninvasive fetal genome sequencing: a primer

1 Apr 2013

Abstract excerpt

We recently demonstrated whole genome sequencing of a human fetus using only parental DNA samples and plasma from the pregnant mother. This proof-of-concept study demonstrated how samples obtained noninvasively in the first or second trimester can be analyzed to yield a highly accurate and substantially complete genetic profile of the fetus, including both inherited and de novo variation. Here, we revisit our...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 23553552
DOI: 10.1002/pd.4097

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