Kelley Harris

This study examines how interruptions at short tandem repeats (STRs) affect mutability and functional importance, finding that coding STRs with purifying selection have higher synonymous interruptions, while noncoding regulatory STRs have fewer interruptions.

The paper introduces AMSD, a signature-agnostic metric to detect differences in mutation spectra between groups, showing its effectiveness in identifying carcinogen and ancestry effects.

The paper identifies a long-standing mutator allele in S. cerevisiae that increases A>C and A>G mutations, showing its persistence and impact on mutation spectra across populations.

The paper maps somatic mutation burden and functional impact across the cancer genome using telomere-to-telomere sequencing, revealing novel mutation hotspots and regulatory rewiring mechanisms.

The paper examines how reproductive longevity interacts with population size to shape germline mutation rates, finding that longer reproductive ages reduce mutation rates per year in sperm and eggs.

This paper introduces a semi-permeable capsule for single-cell genome sequencing, enabling uniform coverage and minimal cross-contamination for detecting genomic variants.

The paper estimates the germline mutation rate in the white abalone and uses it to infer population history and evolutionary patterns in the Haliotis genus.

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.

The paper identifies URA6 mutations that confer 5-FOA resistance in yeast, showing cross-resistance to other fluorinated compounds and revealing a reduction in uridylate kinase activity.

The paper investigates how parental age and STR composition affect de novo mutation rates, finding that maternal age influences STR mutations even when oocytes are not replicating.

The paper identifies epistasis between mutator alleles in mice, showing that combined mutator alleles at two loci increase C>A mutations compared to single mutator alleles.

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

The paper assesses SNVs within human segmental duplications, finding increased mutation rates and interlocus gene conversion, along with distinct mutational spectra.

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.

The paper uses linked-read whole-genome sequencing to identify DNA variants in BXD mice and maps them to phenotypes, enabling systems genetics and precision medicine.

The paper analyzes mutation spectra across great ape genomes to show that species-specific mutational signatures persist despite global divergence, with some signatures linked to replication timing and chromatin states.

The paper shows a 50% increase in a specific mutation type in Europeans over 40,000-80,000 years, linked to potential environmental pressures and DNA repair adaptations.