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Activity Number:
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530
- Integrative Genomics: EQTL and GWAS
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Type:
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Contributed
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Date/Time:
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Wednesday, August 1, 2018 : 10:30 AM to 12:20 PM
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Sponsor:
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Section on Statistics in Genomics and Genetics
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Abstract #327119
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Presentation
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Title:
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Optimal Estimation of Simultaneous Signals Using Absolute Inner Product with Applications to Integrative Genomics
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Author(s):
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Rong Ma* and Tianwen Cai and Hongzhe Li and Mark G Low
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Companies:
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University of Pennsylvania and University of Pennsylvania and University of Pennsylvania and University of Pennsylvania
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Keywords:
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genetic association;
colocalisation;
non-smooth functional;
minimax lower bound;
approximation theory
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Abstract:
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Integrating the summary statistics from genome-wide association study (GWAS) and expression quantitative trait loci (eQTL) data provides a powerful way of identifying the genes whose expression levels are causally associated with complex diseases. A parameter that quantifies the genetic sharing (colocalisation) between disease phenotype and gene expression of a given gene based on the summary statistics is first introduced based on the mean values of two Gaussian sequences. Specifically, given two independent Gaussian sequence samples, the parameter of interest is the absolute inner product of their mean vectors. Using approximation theory, a sparse absolute colocalisation estimator (SpACE) is constructed and shown to be minimax rate optimal over sparse parameter spaces. Our simulation demonstrates that the proposed estimates out-perform other naive methods, and are robust to the presence of block-wise correlated observations due to linkage equilibrium. The method is applied to an integrative analysis of heart failure genomics data sets and identifies several genes and biological pathways that are possibly causal to human heart failure disease.
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Authors who are presenting talks have a * after their name.
