Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
Abstract
Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems. The majority of rare disorders are genetic in origin, with children under the age of five disproportionately affected. As these conditions are difficult to identify clinically, genetic and genomic testing have become the backbone of diagnostic testing in this...
Paper Details
Title
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
Published Date
Apr 25, 2019
Journal
Volume
56
Issue
12
Pages
783 - 791
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