Amanda L. Tapia

TL;DR: It is demonstrated that using TOPMed sequencing data as the imputation reference panel improves genotypes into admixed African and Hispanic/Latino samples with genome-wide genotyping array data, which subsequently enhanced gene-mapping power for complex traits.

TL;DR: The interplay between midlife vascular risk factors and midlife cognitive function with later life mild cognitive impairment (MCI) and dementia (DEM) is not well understood.

TL;DR: It is demonstrated that using TOPMed sequencing data as the imputation reference panel improves genotype imputation quality in these populations, which subsequently enhances gene-mapping power for complex traits and highlights the utility of TOPMed imputations for identification of novel associations between rare variants and complex traits not previously detected in similar sized genome-wide studies of under-represented African and Hispanic/Latino populations.

TL;DR: In this article, Love et al. introduced a new statistical method, MRLocus, for Bayesian estimation of the gene-to-trait effect from eQTL and GWAS summary data for loci with evidence of allelic heterogeneity, that is, containing multiple causal variants.

TL;DR: It is found that MRLocus’ estimation of the causal effect across eQTLs within a locus provides useful information for determining how perturbation of gene expression or individual regulatory elements will affect downstream traits.