Kirk E Lohmueller

Extreme distribution of deleterious variation in a historically small and isolated population-insights from the Greenlandic Inuit

This study analyzes exome sequencing data from Greenlandic Inuit to show they have a severe genetic bottleneck leading to an extreme distribution of deleterious alleles and higher genetic load compared to other populations.

Inference of the distribution of selection coefficients for new nonsynonymous mutations using large samples

This study estimates the distribution of selection coefficients for new nonsynonymous mutations using large datasets, finding fewer strongly deleterious and more weakly deleterious mutations than previous estimates.

Determining the factors driving selective effects of new nonsynonymous mutations

The paper compares theoretical models of mutation effects and finds that Fisher's Geometrical Model best explains the distribution of fitness effects in humans compared to Drosophila melanogaster.

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

This paper improves causal variant identification in exome sequencing for monogenic disorders by incorporating ancestry information to reduce false negatives and improve variant filtering.

The distribution of deleterious genetic variation in human populations

This paper examines differences in deleterious genetic variation across human populations and resolves apparent contradictions between population genetic studies and recent findings on genetic load.