W. Scott Watkins

Human acrocentric chromosome short arm de novo mutation and recombination

The paper investigates mutation and recombination patterns in human acrocentric chromosome short arms using multiple sequencing technologies and a four-generation pedigree.

The Platinum Pedigree: A long-read benchmark for genetic variants

The paper creates a long-read benchmark for genetic variants using a large pedigree, improving variant calling performance and introducing new truth sets for tandem repeats and structural variants.

Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery

This study uses AI to show that genome sequencing can predict adverse outcomes after congenital heart defect surgery by identifying damaging genotypes in specific genes.

A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree

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 Mutational Dynamics of Short Tandem Repeats in Large, Multigenerational Families

The paper estimates the genome-wide de novo STR mutation rate in human pedigrees and identifies factors influencing STR mutation dynamics.

TypeTE: a tool to genotype mobile element insertions from whole genome resequencing data

TypeTE improves Alu insertion genotype accuracy from 83% to 92% in the 1000 Genomes dataset by reassembling and re-mapping sequencing data.

Pedigree-based estimation of human mobile element retrotransposition rates

The paper estimates human retrotransposition rates for L1, Alu, and SVA elements using WGS data from 33 three-generation pedigrees, finding rates and parent-of-origin effects.