Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.

ABSTRACT:

Background

Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce. We studied the application of exome sequencing to the identification of pathogenic/likely pathogenic variants in the ACMG 59 gene list and the frequency of these variants in the Taiwanese population.

Methods

This study screened 161 Taiwanese exomes for variants from the ACMG 59 gene list. The identified variants were reviewed based on information from different databases and the available literature and classified according to the ACMG standard guidelines.

Results

We identified seven pathogenic/likely pathogenic variants in eight individuals, with five participants with autosomal recessive v

SUBMITTER: Kuo CW 

PROVIDER: S-EPMC7549563 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature