While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have been relatively few genome‐wide association studies (GWAS) of these conditions. We reviewed the current landscape of GWAS conducted for birth defects, noting novel insights, and future directions.

中文翻译：

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结构性出生缺陷的全基因组关联研究：综述和评论。

虽然有强有力的证据表明遗传风险因素在结构性出生缺陷的病因中起重要作用，但与其他疾病相比，这些疾病的全基因组关联研究 (GWAS) 相对较少。我们回顾了针对出生缺陷进行的 GWAS 的现状，指出了新的见解和未来的方向。