Expanded genetic screening panel for the Ashkenazi Jewish population.

ABSTRACT:

Purpose

Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown.

Methods

Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the

SUBMITTER: Baskovich B 

PROVIDER: S-EPMC4814352 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature