István Bartha

The paper uses human genetic data to analyze 3D protein structures and identifies intolerant sites that correlate with functional and drug target properties.

The paper shows that correcting for population stratification in host and pathogen genomes reduces false positives and negatives in association analyses.

This paper screens adults using whole genome sequencing and imaging to detect age-related chronic disease risks, finding unrecognized diseases in 8% of participants and genomic correlations in 25%.

The paper analyzes genetic diversity across 11,257 human genomes to identify context-dependent conserved regions and their association with disease variants.

The paper uses polygenic methods to identify genetic overlaps between HIV acquisition and schizophrenia, ulcerative colitis, and finds potential novel variants associated with HIV.

The paper estimates that 10.8% of human genes are haploinsufficient based on truncating variants in 11,546 individuals.