Expanding ACMG variant classification guidelines into a general framework

Expanding ACMG variant classification guidelines into a general framework

Abstract Background The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical genetics. However, these guidelines are fundamentall...

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Bibliographic Details
Main Authors: Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Human Genomics
Subjects:
ACMG guidelines
Allele frequency threshold
Allelic heterogeneity
Disease prevalence
Exome sequencing
Genetic heterogeneity
Online Access:https://doi.org/10.1186/s40246-022-00407-x

Internet

https://doi.org/10.1186/s40246-022-00407-x

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