Evan M Koch

Inference of elevated mutation rates and variant effects using 700k exomes

The paper estimates mutation rates and variant effects using 700k exomes to identify genes with mutational hotspots and improve variant prioritization for genetic diagnostics.

Hotspots of human mutation point to clonal expansions in spermatogonia

The paper identifies genes with hypermutable de novo mutations as potential drivers of clonal expansions in spermatogonia, highlighting their impact on mutation rates and disease associations.

Genetic association data are broadly consistent with stabilizing selection shaping human common diseases and traits

The paper analyzes GWAS data for 27 traits to test evolutionary models, finding most traits are consistent with stabilizing selection rather than neutral evolution or directional selection.

Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection

The paper introduces LDSPEC to estimate correlations between causal disease effects of proximal SNPs, finding significant correlations that vary with distance, allele frequency, LD, and functional annotations, implicating stabilizing selection.

A mutation rate model at the basepair resolution identifies the mutagenic effect of Polymerase III transcription

The paper introduces a basepair-resolution mutation rate model, Roulette, which identifies a 10-fold increase in mutation rate for Polymerase III-transcribed genes and detects elevated rates in testis-specific transcription factor binding sites.

Mutation rates and adaptive variation among the clinically dominant clusters of Mycobacterium abscessus

The paper shows that phylogenetic clustering in Mycobacterium abscessus is linked to reduced mutation rates and DNA repair gene variation, suggesting adaptation rather than transmission as the cause.

Population-specific causal disease effect sizes in functionally important regions impacted by selection

The paper develops a method to identify population-specific causal effect sizes in functionally important regions using trans-ethnic genetic correlations.