Article
Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.
Birth defects research - 2 Oct 2017
Cai Yi, Patterson Karynne E, Reinier Frederic, Keesecker Sarah E, Blue Elizabeth, Bamshad Michael, Haddad Joseph
Abstract excerpt
BACKGROUND: The majority of cleft lip with or without cleft palate cases appear as an isolated, nonsyndromic entity (NSCLP). With the advent of next generation sequencing, whole exome sequencing (WES) has been used to identify single nucleotide variants and insertion/deletions which cause or increase the risk of NSCLP. However, to our knowledge, there are no published studies using WES in NSCLP to investigate...
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