Annabel C. Beichman

The distribution of fitness effects varies phylogenetically across animals

This study examines the distribution of fitness effects (DFE) across eleven animal species, finding that DFE co-varies with phylogeny and that mammals have more deleterious mutations than insects and birds.

A maternal germline mutator phenotype in a family affected by heritable colorectal cancer

The paper measures germline mutation rates in a family with MUTYH pathogenic variants, finding elevated C>A mutations in children of affected mothers but not fathers, suggesting maternal-specific mutator effects.

mutyper: assigning and summarizing mutation types for analyzing germline mutation spectra

mutyper assigns mutation types to SNP data using ancestral genome estimates and computes mutation spectra for individuals and populations.

A natural mutator allele shapes mutation spectrum variation in mice

The paper identifies a natural mutator allele in mice that increases C>A germline mutations by 50% due to a variant of the Mutyh gene.