Insights into genetics, human biology and disease gleaned from family based genomic studies
Abstract
Identifying genes and variants contributing to rare disease phenotypes and Mendelian conditions informs biology and medicine, yet potential phenotypic consequences for variation of >75% of the ~20,000 annotated genes in the human genome are lacking. Technical advances to assess rare variation genome-wide, particularly exome sequencing (ES), enabled establishment in the United States of the National Institutes of Health (NIH)-supported Centers...
Paper Details
Title
Insights into genetics, human biology and disease gleaned from family based genomic studies
Published Date
Apr 1, 2019
Journal
Volume
21
Issue
4
Pages
798 - 812
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