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Article

Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing.

BMC medical genomics - 23 Jan 2024

Zhao Weihua, Song Yanyan, Huang Chuanfeng, Xu Shan, Luo Qi, Yao Runsi, Sun Nan, Liang Bo, Fei Jia, Gao Fangfang, Huang Jie, Qu Shoufang

Abstract excerpt

OBJECTIVE: Preimplantation genetic testing for monogenic disorders (PGT-M) has been used for over 20 years to detect many serious genetic conditions. However, there is still a lack of reference materials (RMs) to validate the test performance during the development and quality control of PGT-M. METHOD: Sixteen thalassemia cell lines from four thalassemia families were selected to establish the RMs. Each family...

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Identifiers

PMID: 38262988
DOI: 10.1186/s12920-024-01803-z
PMCID: PMC10807056

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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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