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Human Genome Sequence Variation and the Inherited Basis of Common Disease

机译:人类基因组序列变异和常见疾病的遗传基础

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A central goal in medical research is to understand how variation in DNA sequence, environment and behavior combine to cause common human diseases. To date, most progress has been limited to rare conditions in which mutation of a single gene is both necessary and sufficient to cause disease. In common diseases, in contrast, multiple genes combine with environmental influences, meaning that the contribution of any single gene variant is probabilistic rather than deterministic. Where gene effects are partial, rather than complete, their effects can only be demonstrated by measuring frequencies of variants in collections of patients and controls much larger than a single family.
机译:在医学研究中的核心目标是了解DNA序列,环境和行为如何结合引起普遍的人类疾病。迄今为止,大多数进展仅限于罕见的条件,其中单个基因的突变都是必要的并且足以引起疾病。相反,在常见的疾病中,多种基因与环境影响结合,这意味着任何单一基因变异的贡献是概率的,而不是确定性。如果基因效应是部分的,而不是完整的,它们的效果只能通过测量患者收集中的变体的频率和远大于单个家庭来证明它们的效果。

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