Amit V. Khera

This study identifies 12 enhancers in the 9p21.3 CAD risk locus that regulate MTAP, modulating vascular cell-state transitions and CAD risk through stress-responsive mechanisms.

The paper identifies rare variant polygenic risk scores as more effective than common variant polygenic risk scores in identifying individuals with outlier phenotypes in common human diseases and complex traits.

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This paper introduces PolyPred and PolyPred+ to improve cross-population polygenic risk score accuracy by addressing LD, MAF, and causal effect size differences using fine-mapping and non-European training data.

The paper uses machine learning to quantify liver fat from MRI data and identifies genetic variants associated with liver fat accumulation and related diseases.

The paper uses polygenic scores to identify plasma proteins causally linked to cardiometabolic diseases and finds some are targets for existing therapies.

The paper designs and tests a polygenic score report for coronary artery disease, identifying user preferences for visual elements, risk communication, and personalized resources.

This paper integrates monogenic, polygenic, and clinical risk factors to predict disease risk for carriers of rare variants, identifying elevated risk in 18.22% of UK Biobank participants for breast cancer, familial hypercholesterolemia, and colorectal cancer.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

This study compares genome sequencing with standard-of-care genetic testing, finding similar diagnostic yields but longer turnaround times for genome sequencing.

ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.

The paper characterizes the genetic structure of South Asian populations, identifies founder effects and high homozygosity, and develops a custom SNP array for genetic studies in the region.

This study investigates the impact of heterozygous ABCG5 LoF variants on LDL-C levels and CAD risk, finding a significant association with elevated LDL-C and doubled CAD risk.

The paper examines how polygenic risk modifies the penetrance of monogenic variants in coronary artery disease, breast cancer, and colorectal cancer across multiple cohorts.

Short-read genome sequencing of 14,891 diverse genomes yields 433,371 structural variants (SVs) for gnomAD; loss-constrained genes also resist duplication, and clinical SV carrier rates are benchmarked.

The paper identifies a missense variant in the MARC1 gene associated with protection against cirrhosis and lower liver enzyme and cholesterol levels.

This study identifies 26 novel genetic loci associated with cardiac structure and function using MRI data from 29,041 individuals and links them to dilated cardiomyopathy risk.

This study shows low coverage whole genome sequencing can accurately assess common variants and calculate polygenic scores, comparable to genotyping arrays.

This study investigates whether genetic predisposition to higher arterial stiffness index (ASI) is associated with blood pressure and coronary artery disease risk, finding a link with blood pressure but not CAD.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

A genome-wide polygenic score identifies individuals with a 4-fold increased risk for coronary disease, similar to a rare monogenic mutation.