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Am J Med Genet A. 2011 Aug;155A(8):1794-7. doi: 10.1002/ajmg.a.34103. Epub 2011 Jul 7.

Discovery of genetic susceptibility factors for human birth defects: an opportunity for a National Agenda.

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  • 1Department of Epidemiology, Gillings School of Global Public Health, Chapel Hill, North Carolina, USA.


A recent workshop highlighted the current challenges and new opportunities for studying the role of genetic factors in the etiology of human birth defects. The workshop provided a series of recommendations pertaining to the use of animal models, key elements of population-based designs, the need for national collaborative projects, biorepositories, and consortia, investigation of new types of structural genetic variants, examination of gene-exposure interactions, and a strategy for gene variant discovery. A key reason to hold the recent workshop and contribute this concise communication to the literature is to draw attention to and initiate action toward advancing discoveries about the genetic etiologies of birth defects.

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