Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery

被引：17

作者：

McCarthy, Mark I. ^{[1
,2
]}

机构：

[1] Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Churchill Hosp, Oxford OX3 7LJ, England

[2] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX7 7BN, England

来源：

GENOME MEDICINE | 2009年 / 1卷

关键词：

Dark Matter; Causal Variant; Rare Causal Variant; Complex Trait Disease; Gene Discovery Effort;

D O I：

10.1186/gm66

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Identification of common-variant associations for many common disorders has been highly effective, but the loci detected so far typically explain only a small proportion of the genetic predisposition to disease. Extending explained genetic variance is one of the major near-term goals of human genetic research. Next-generation sequencing technologies offer great promise, but optimal strategies for their deployment remain uncertain, not least because we lack a clear view of the characteristics of the variants being sought. Here, I discuss what can and cannot be inferred about complex trait disease architecture from the information currently available and review the implications for future research strategies.

引用

页数：4

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