Abhiram S. Rao

This study integrates rare large-effect expression variants into polygenic risk scores, showing improved prediction of complex traits by including these variants in risk assessment.

This study shows butyrate induces chromatin accessibility changes in colon cancer cells, linking these changes to GWAS loci and somatic mutations in colorectal cancer.

The paper uses GTEx data to analyze GWAS loci, showing dose-dependent RNA effects and proposing target genes for 47% of loci using combined methods.

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 assesses the impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx, finding that local ancestry adjustment improves power but has limited effect on colocalization probabilities.

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.

The paper identifies distinct regulatory patterns and trait associations of lncRNA genes compared to protein-coding genes across human tissues.

The paper conducts genome-wide association studies on urinary biomarkers in the UK Biobank, identifying 78 novel loci and confirming existing associations, linking these biomarkers to chronic diseases.

The paper identifies five genes modulating coronary artery disease risk through smooth muscle cells by integrating eQTL and GWAS data with transcriptomic and epigenomic analyses.

This paper identifies a protective effect of PCSK9 loss-of-function variant rs11591147 against ischemic stroke using UK Biobank data.