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

Research output: Contribution to journalReview articlepeer-review

150 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)491-504
Number of pages14
JournalNature Reviews Genetics
Issue number8
StatePublished - Aug 1 2018

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'From genome-wide associations to candidate causal variants by statistical fine-mapping'. Together they form a unique fingerprint.

Cite this