Tanima De

The paper identifies SLC39A5 as a gene whose loss-of-function variants are associated with reduced type II diabetes risk and improved liver function in metabolic disorders.

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

The paper uses drug perturbation in African American hepatocytes to identify drug response eQTLs (reQTLs) and find genetic regulators of hepatic gene expression.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

This paper identifies a genetic variant associated with primary non-response to anti-TNFα therapy in IBD patients and links it to increased TNF secretion through autophagy mechanisms.

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

This study incorporates DNA methylation into eQTL mapping in African American hepatocytes, revealing new eQTLs and eGenes and suggesting DNA methylation modulates SNP-gene associations.