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Article

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism.

BMC medical genomics - 25 Feb 2021

Ma Na, Xi Hui, Chen Jing, Peng Ying, Jia Zhengjun, Yang Shuting, Hu Jiancheng, Pang Jialun, Zhang Yanan, Hu Rong, Wang Hua, Liu Jing

Abstract excerpt

BACKGROUND: Emerging studies suggest that low-coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. METHODS: A total of 72 mosaicism cases identified by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33632221
DOI: 10.1186/s12920-021-00899-x
PMCID: PMC7905897

Provenance

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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