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Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia.

Systems biology in reproductive medicine - 1 Feb 2022

He Bin, Wang Lin, Wu Qiuhua, Wang Xiaobin, Ji Xingzhe, Shi Wenhao, Shi Juanzi, Qiang Rong, Zhen Shuai

Abstract excerpt

This study describes a successful case of preimplantation genetic testing for the monogenic disease (PGT-M) of methylmalonic acidemia (MMA). To avoid the transmission of pathogenic mutations and unnecessary pregnancy termination we applied next-generation sequencing (NGS)-based haplotyping on a couple with a previously deceased MMA offspring. After embryo preparation, all samples were amplified successfully by...

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Identifiers

PMID: 34913786
DOI: 10.1080/19396368.2021.2005718

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