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Article

Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases.

Life science alliance - 1 May 2023

Chang Liang, Jiao Haining, Chen Jiucheng, Wu Guanlin, Liu Ping, Li Rong, Guo Jianying, Long Wenqing, Tang Xiaojian, Lu Bingjie, Xu Haibin, Wu Han

Abstract excerpt

Monogenic inherited diseases are common causes of congenital disabilities, leading to severe economic and mental burdens on affected families. In our previous study, we demonstrated the validity of cell-based noninvasive prenatal testing (cbNIPT) in prenatal diagnosis by single-cell targeted sequencing. The present research further explored the feasibility of single-cell whole-genome sequencing (WGS) and...

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Identifiers

PMID: 36810160
DOI: 10.26508/lsa.202201761
PMCID: PMC9947115

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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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