Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data.

View Abstract

There is great interest in understanding the impact of rare variants in human diseases using large sequence datasets. In deep sequence datasets of >10,000 samples, ~10% of the variant sites are observed to be multi-allelic. Many of the multi-allelic variants have been shown to be functional and disease-relevant. Proper analysis of multi-allelic variants is critical to the success of a sequencing study, but existing methods do not properly handle multi-allelic variants and can produce highly misleading association results. We discuss practical issues and methods to encode multi-allelic sites, conduct single-variant and gene-level association analyses, and perform meta-analysis for multi-allelic variants. We evaluated these methods through extensive simulations and the study of a large meta-analysis of ~18,000 samples on the cigarettes-per-day phenotype. We showed that our joint modeling approach provided an unbiased estimate of genetic effects, greatly improved the power of single-variant association tests among methods that can properly estimate allele effects, and enhanced gene-level tests over existing approaches. Software packages implementing these methods are available online.

Investigators
Abbreviation
Genes (Basel)
Publication Date
2020-05-25
Volume
11
Issue
5
Pubmed ID
32466134
Medium
Electronic
Full Title
Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data.
Authors
Jiang Y, Chen S, Wang X, Liu M, Iacono WG, Hewitt JK, Hokanson JE, Krauter K, Laakso M, Li KW, Lutz SM, McGue M, Pandit A, Zajac GJM, Boehnke M, Abecasis GR, Vrieze SI, Jiang B, Zhan X, Liu DJ