Michael E. Goldberg

This study identifies genomic factors influencing tandem repeat mutagenesis using long-read sequencing in a large family, finding that de novo mutations are more common at longer, uninterrupted, and heterozygous loci.

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 evaluates genetic-constraint metrics across the human noncoding genome and identifies regions where they underperform due to model bias and low signal-to-noise ratios.

The paper uses a four-generation family to systematically assess de novo mutations and recombination, finding high mutation rates and paternal bias, along with a detailed recombination map.

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.

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 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.