Paul N. Valdmanis

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.

The paper identifies a Denisovan-like MUC19 haplotype in Indigenous Americans and Neanderthals, showing it is under positive selection and has high copy numbers of a tandem repeat.

This study characterizes structural and genetic diversity in MUC5AC and MUC5B using long-read sequencing, revealing haplotype variation and evolutionary patterns across human and nonhuman primate populations.

The paper characterizes human-specific VNTRs by analyzing their nucleotide composition and expansion dynamics across genomes and populations.