Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

ABSTRACT: Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These individuals can be studied to identify novel genes critical in human development and to annotate further the function of known genes. Identification and characterization of these genes is the goal of the Developmental Genome Anatomy Project (DGAP). DGAP is a multidisciplinary effort that leverages the recent advances resulting from the Human Genome Project to increase our understanding of birth defects and the process of human development. Clinically significant phenotypes of individuals enrolled in DGAP are varied and, in most cases, involve multiple organ systems. Study of these individuals' chromosomal rearrangements has

SUBMITTER: Higgins AW 

PROVIDER: S-EPMC2427206 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature