Non-invasive whole genome sequencing of a human fetus
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ABSTRACT: The overall purpose of this study was to demonstrate the feasibility of producing haplotype-phased whole genome sequence data from a fetus using free fetal DNA isolated from maternal plasma collected during the first half of gestation.
PROVIDER: phs000500.v1.p1 | EGA |
REPOSITORIES: EGA
Publications
Noninvasive whole-genome sequencing of a human fetus.
Kitzman Jacob O JO Snyder Matthew W MW Ventura Mario M Lewis Alexandra P AP Qiu Ruolan R Simmons Lavone E LE Gammill Hilary S HS Rubens Craig E CE Santillan Donna A DA Murray Jeffrey C JC Tabor Holly K HK Bamshad Michael J MJ Eichler Evan E EE Shendure Jay J
Science translational medicine 20120601 137
Analysis of cell-free fetal DNA in maternal plasma holds promise for the development of noninvasive prenatal genetic diagnostics. Previous studies have been restricted to detection of fetal trisomies, to specific paternally inherited mutations, or to genotyping common polymorphisms using material obtained invasively, for example, through chorionic villus sampling. Here, we combine genome sequencing of two parents, genome-wide maternal haplotyping, and deep sequencing of maternal plasma DNA to no ...[more]
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Project description:<p>The overall purpose of this study was to demonstrate the feasibility of producing haplotype-phased whole genome sequence data from a fetus using free fetal DNA isolated from maternal plasma collected during the first half of gestation.</p>
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