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Multiple nucleotide variants in genetic diagnosis: implications from 11,467 cases of hearing loss.

Journal of genetics and genomics = Yi chuan xue bao - 1 Dec 2025

Ai Fandi, Zeng Jiayi, Zhang Qian, Zhong Mingjun, Chen Meilin, Lu Yu, Cheng Jing, Chen Lei, Bu Fengxiao, Yuan Huijun

Abstract excerpt

Multiple nucleotide variants (MNVs) are frequently misannotated as separate single-nucleotide variants (SNVs) by widely utilized variant-calling pipelines, presenting substantial challenges in genetic testing and research. The role of MNVs in genetic diagnosis remains inadequately characterized, particularly within large disease cohorts. In this study, we comprehensively investigate codon-level MNVs (cMNVs)...

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PMID: 40189202
DOI: 10.1016/j.jgg.2025.03.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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