Genetic Heterogeneity in Human Disease
Genetic Heterogeneity in Human Disease
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DOI：
10.1016/j.cell.2010.03.032
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发表时间：
2010-04-16
期刊：
影响因子：
64.5
通讯作者：
King, Mary-Claire
中科院分区：
文献类型：
--
作者：
McClellan, Jon;King, Mary-Claire
强有力的证据表明，具有严重影响的罕见突变是造成大部分复杂人类疾病的原因。进化的力量通过在每一代中引入许多新的变异，在人类疾病中产生了巨大的遗传异质性。当前的测序技术提供了发现罕见的致病突变以及包含这些突变的基因的可能性。
Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in each generation. Current sequencing technologies offer the possibility of finding rare disease-causing mutations and the genes that harbor them.