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Article

Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.

Science translational medicine - 8 Dec 2010

Lo Y M Dennis, Chan K C Allen, Sun Hao, Chen Eric Z, Jiang Peiyong, Lun Fiona M F, Zheng Yama W, Leung Tak Y, Lau Tze K, Cantor Charles R, Chiu Rossa W K

Abstract excerpt

Cell-free fetal DNA is present in the plasma of pregnant women. It consists of short DNA fragments among primarily maternally derived DNA fragments. We sequenced a maternal plasma DNA sample at up to 65-fold genomic coverage. We showed that the entire fetal and maternal genomes were represented in maternal plasma at a constant relative proportion. Plasma DNA molecules showed a predictable fragmentation pattern...

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Identifiers

PMID: 21148127
DOI: 10.1126/scitranslmed.3001720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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