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Article

Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery.

BMC medicine - 27 Feb 2013

Papageorgiou Elisavet A, Patsalis Philippos C

Abstract excerpt

Noninvasive prenatal diagnosis of chromosomal aneuploidies, although challenging, has been achieved through the implementation of novel methodologies such as methylated DNA immunoprecipitation and next generation sequencing technologies. Nevertheless, additional developments are required towards the interpretation of other fetal abnormalities of higher complexity, such as de novo mutations including microdeletion...

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Identifiers

PMID: 23445999
DOI: 10.1186/1741-7015-11-56
PMCID: PMC3621811

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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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