Effective SNP ranking improves the performance of eQTL mapping

X. Jessie Jeng, Jacob Rhyne, Teng Zhang, Jung Ying Tzeng

Research output: Contribution to journalArticle


Genome-wide expression quantitative trait loci (eQTLs) mapping explores the relationship between gene expression and DNA variants, such as single-nucleotide polymorphism (SNPs), to understand genetic basis of human diseases. Due to the large number of genes and SNPs that need to be assessed, current methods for eQTL mapping often suffer from low detection power, especially for identifying trans-eQTLs. In this paper, we propose the idea of performing SNP ranking based on the higher criticism statistic, a summary statistic developed in large-scale signal detection. We illustrate how the HC-based SNP ranking can effectively prioritize eQTL signals over noise, greatly reduce the burden of joint modeling, and improve the power for eQTL mapping. Numerical results in simulation studies demonstrate the superior performance of our method compared to existing methods. The proposed method is also evaluated in HapMap eQTL data analysis and the results are compared to a database of known eQTLs.

Original languageEnglish
JournalGenetic Epidemiology
Publication statusAccepted/In press - 2020 Jan 1

All Science Journal Classification (ASJC) codes

  • Epidemiology
  • Genetics(clinical)

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