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

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

Abstract 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 threshold...

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Bibliographic Details
Main Authors: Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan
Format: Article
Language:English
Published: BMC 2023-12-01
Series:Genome Medicine
Subjects:
PS4
ACMG/AMP guidelines
Variant classification
Cohort dataset
Hearing loss
Online Access:https://doi.org/10.1186/s13073-023-01271-7

Internet

https://doi.org/10.1186/s13073-023-01271-7

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