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剖析人类基因型-表型关联的来源。

Deconstructing the sources of genotype-phenotype associations in humans.

机构信息

Big Data Institute, Li Ka Shing Centre for Health Information Discovery, University of Oxford, Oxford, UK.

Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

出版信息

Science. 2019 Sep 27;365(6460):1396-1400. doi: 10.1126/science.aax3710.

Abstract

Efforts to link variation in the human genome to phenotypes have progressed at a tremendous pace in recent decades. Most human traits have been shown to be affected by a large number of genetic variants across the genome. To interpret these associations and to use them reliably-in particular for phenotypic prediction-a better understanding of the many sources of genotype-phenotype associations is necessary. We summarize the progress that has been made in this direction in humans, notably in decomposing direct and indirect genetic effects as well as population structure confounding. We discuss the natural next steps in data collection and methodology development, with a focus on what can be gained by analyzing genotype and phenotype data from close relatives.

摘要

近几十年来,人类基因组变异与表型关联的研究进展迅速。大量研究表明,大多数人类特征都受到基因组中大量遗传变异的影响。为了解释这些关联并可靠地利用它们,特别是进行表型预测,需要更好地理解基因型-表型关联的许多来源。我们总结了在人类中朝着这个方向取得的进展,特别是在分解直接和间接遗传效应以及群体结构混杂方面。我们讨论了数据收集和方法开发的下一步自然步骤,重点是分析近亲的基因型和表型数据可以获得什么。

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