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From genome-wide associations to candidate causal variants by statistical fine-mapping.

ABSTRACT: Advancing from statistical associations of complex traits with genetic markers to understanding the functional genetic variants that influence traits is often a complex process. Fine-mapping can select and prioritize genetic variants for further study, yet the multitude of analytical strategies and study designs makes it challenging to choose an optimal approach. We review the strengths and weaknesses of different fine-mapping approaches, emphasizing the main factors that affect performance. Topics include interpreting results from genome-wide association studies (GWAS), the role of linkage disequilibrium, statistical fine-mapping approaches, trans-ethnic studies, genomic annotation and data integration, and other analysis and design issues.

SUBMITTER: Schaid DJ

PROVIDER: S-EPMC6050137 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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From genome-wide associations to candidate causal variants by statistical fine-mapping.

Schaid Daniel J DJ Chen Wenan W Larson Nicholas B NB

Nature reviews. Genetics 20180801 8

Advancing from statistical associations of complex traits with genetic markers to understanding the functional genetic variants that influence traits is often a complex process. Fine-mapping can select and prioritize genetic variants for further study, yet the multitude of analytical strategies and study designs makes it challenging to choose an optimal approach. We review the strengths and weaknesses of different fine-mapping approaches, emphasizing the main factors that affect performance. Top ...[more]

PMID: 29844615

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