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  • NYU Dataset

    Genetic Sequencing Data Characterized Genetic Etiology of Craniofacial Microsomia

    Authors
    Andrew T. Timberlake
    Casey Griffin
    Carrie L. Heike
    Anne V. Hing
    25 more author(s)...
    Description

    This dataset was collected to study the genetic cause of craniofacial microsomia (CFM), which is the second most common congenital facial anomaly. In this study, they performed whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM. This is identified as a highly significant burden of loss of function variants in SF3B2, which is the most prevalent genetic cause...

    Subject
    Genomics
    Access Rights
    Free to All