A curated gene list for reporting results of newborn genomic sequencing.

ABSTRACT:

Purpose

Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the clinical relevance of detected variants and the genes they impact so that disease risk is reported appropriately.

Methods

To facilitate rapid interpretation of GS results in newborns, we curated a catalog of genes with putative pediatric relevance for their validity based on the ClinGen clinical validity classification framework criteria, age of onset, penetrance, and mode of inheritance through systematic evaluation of published evidence. Based on these attributes, we classified genes to guide the return of results in the BabySeq Project, a rando

SUBMITTER: Ceyhan-Birsoy O 

PROVIDER: S-EPMC5507765 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature