Estimated carrier rates of 17 Mendelian disorders using ExAC data.

The carrier rates of Mendelian disorders were estimated using ExAC dataset. Child-hood cardiomyopathy (MIM no description) and Usher syndrome type 1J (USH1J) (#614869) were detected in ExAC but not in 1000G and NHLBI. ExAC populations are largely divided into six races: African, Latino, European (non-Finnish), European (Finnish), South Asian, East Asian, and Other.本研究利用ExAC数据集（ExAC dataset）估算了孟德尔遗传病（Mendelian disorders）的携带率。研究发现，儿童心肌病（childhood cardiomyopathy，MIM无相关描述）与1J型乌谢尔综合征（Usher syndrome type 1J，USH1J，#614869）可在ExAC数据集中被检出，但未在千人基因组计划（1000G）与美国国立心肺血液研究所（NHLBI）的相关数据中发现。ExAC数据集的研究人群大致分为六大类族群：非裔、拉丁裔、非芬兰裔欧洲人、芬兰裔欧洲人、南亚裔、东亚裔及其他族群。