Original paper
Whole exome association of rare deletions in multiplex oral cleft families
Abstract
By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single nucleotide variants (SNVs) were associated with an increased risk of nonsyndromic oral cleft, highlighting the importance of rare sequence variants in oral clefts and illustrating the strength of family-based...
Paper Details
Title
Whole exome association of rare deletions in multiplex oral cleft families
Published Date
Dec 1, 2016
Journal
Volume
41
Issue
1
Pages
61 - 69
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Notes
History