Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.

Liting ChengXiaoyan LiLin ZhaoZefeng WangJunmeng ZhangZhuo LiangYongquan Wu

Published in: International journal of genomics (2020)

For patients with familial CCD, 13 high-priority genes are recommended for evaluation. For genetic studies, variants should be carefully evaluated using the ACMG/AMP variant classification framework before publication.

Keyphrases

deep learning
machine learning
genome wide
copy number
protein kinase
case control
early onset
gene expression
bioinformatics analysis