Shamil Sunyaev

Negative selection in humans and fruit flies involves synergistic epistasis

The paper detects underdispersion of rare loss-of-function alleles in humans and fruit flies, suggesting synergistic epistasis in negative selection.

Shared effect modeling reveals that a fraction of autoimmune disease associations are consistent with eQTLs in three immune cell types

This study identifies that about 25% of autoimmune disease loci have eQTLs driven by the same genetic effect using a shared effect modeling approach.

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

Leveraging distant relatedness to quantify human mutation and gene conversion rates

The paper quantifies human mutation and gene conversion rates using IBD segments and population history, finding higher mutation rates than pedigree-based estimates but lower than primate substitution rates.

No evidence that natural selection has been less effective at removing deleterious mutations in Europeans than in West Africans

The paper tests if natural selection removed deleterious mutations less effectively in Europeans than West Africans, finding no significant difference.