Journal article
Noninvasive fetal genome sequencing: a primer
Prenatal diagnosis, Vol.33(6), pp.547-554
06/2013
DOI: 10.1002/pd.4097
PMCID: PMC3727971
PMID: 23553552
Abstract
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 original study from a clinical standpoint, provide an overview of the scientific approach, and describe opportunities and challenges along the path toward clinical adoption of noninvasive fetal whole genome sequencing.
Details
- Title: Subtitle
- Noninvasive fetal genome sequencing: a primer
- Creators
- Matthew W Snyder - Department of Genome Sciences, University of Washington, Seattle, WA, USALaVone E SimmonsJacob O KitzmanDonna A SantillanMark K SantillanHilary S GammillJay Shendure
- Resource Type
- Journal article
- Publication Details
- Prenatal diagnosis, Vol.33(6), pp.547-554
- Publisher
- England
- DOI
- 10.1002/pd.4097
- PMID
- 23553552
- PMCID
- PMC3727971
- ISSN
- 0197-3851
- eISSN
- 1097-0223
- Grant note
- K08 HD067221 / NICHD NIH HHS R01 HG006283 / NHGRI NIH HHS
- Language
- English
- Date published
- 06/2013
- Academic Unit
- Obstetrics and Gynecology
- Record Identifier
- 9983931828902771
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