Discovery of Genetic Susceptibility Factors for Human Birth Defects: An Opportunity for a National Agenda

作者：Olshan Andrew F^*; Hobbs Charlotte A; Shaw Gary M

来源：American Journal of Medical Genetics, Part A, 2011, 155A(8): 1794-1797.

DOI：10.1002/ajmg.a.34103

• genetics
• congenital abnormalities
• DNA
• genetic variation
• single nucleotide
• polymorphism
• epidemiology
• etiology

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.

• 出版日期2011-8