Yuan Ming He

This study introduces ARCHIE, a method to identify trait-specific gene sets through trans-eQTL analysis, finding 71 gene networks with significant trans-associations across 29 traits.

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

The paper uses matrix factorization to analyze eQTLs across 49 human tissues, identifying tissue-specific and shared genetic regulation patterns and their potential transcription factor drivers.