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Article

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Genome medicine - 18 Dec 2023

Liu Sihan, Zhong Mingjun, Huang Yu, Zhang Qian, Chen Ting, Xu Xiaofei, Peng Wan, Wang Xiaolu, Feng Xiaoshu, Kang Lu, Lu Yu, Cheng Jing, Bu Fengxiao, Yuan Huijun

Abstract excerpt

BACKGROUND: The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant enrichment among cases as "strong" evidence for pathogenicity per the PS4 criterion. However, quantitative support for PS4 thresholds from real-world Mendelian case-control cohorts is lacking. METHODS: To address this gap, we evaluated and established PS4 thresholds...

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Identifiers

PMID: 38111038
DOI: 10.1186/s13073-023-01271-7
PMCID: PMC10726519

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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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