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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2017

Ceyhan-Birsoy Ozge, Machini Kalotina, Lebo Matthew S, Yu Tim W, Agrawal Pankaj B, Parad Richard B, Holm Ingrid A, McGuire Amy, Green Robert C, Beggs Alan H, Rehm Heidi L

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28079900
DOI: 10.1038/gim.2016.193
PMCID: PMC5507765

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