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Article

Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.

Clinical chemistry - 1 Oct 2012

Lam Kwan-Wood G, Jiang Peiyong, Liao Gary J W, Chan K C Allen, Leung Tak Y, Chiu Rossa W K, Lo Y M Dennis

Abstract excerpt

BACKGROUND: A genomewide genetic and mutational profile of a fetus was recently determined via deep sequencing of maternal plasma DNA. This technology could have important applications for noninvasive prenatal diagnosis (NIPD) of many monogenic diseases. Relative haplotype dosage (RHDO) analysis, a core step of this procedure, would allow one to elucidate the maternally inherited half of the fetal genome. For...

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PMID: 22896714
DOI: 10.1373/clinchem.2012.189589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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