严重隐性遗传性儿童疾病的新型遗传学测试

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation

题为＂Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing＂论文发表在《科学》出版社旗下的《科学转化医学》（Science Translational Medicine）杂志上（2001年1月12日出版）,

Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account fort 20 % of infant mortality and- 10 % of pediatric hospitalizations.