Richard N. McLaughlin

This study identifies APOBEC3G splicing defects in nonhuman primates that lead to different viral mutation profiles compared to humans.

This paper benchmarks 7 TR genotyping tools using Nanopore long-read data, finding that no single tool is best across all metrics, and that sequence-level accuracy is crucial for clinical and population studies.

The paper uses long-read assemblies to analyze human LINE-1 retrotransposons, revealing their recent activity, population diversity, and evolutionary dynamics.

The paper uses long-read sequencing on 100 samples from the 1000 Genomes Project to identify structural variants and improve understanding of human genetic variation.

The paper profiles LINE-1 activity at allelic resolution in a single human genome, finding that some LINE-1s are active in vitro but not in vivo, and some old LINE-1s retain activity and may be adaptive.

The paper predicts the functional effect of compound heterozygous genotypes using a yeast-based assay and a linear model applied to variant effect maps.

The paper develops a high-throughput functional assay to assess the impact of 1,570 OTC missense variants, improving variant interpretation using ACMG/AMP guidelines.

The paper shows that retrocopying generates new APOBEC3 antiviral proteins in primates, expanding their functional repertoire to counteract viral evolution.

The paper estimates the number and sequence of intact LINE-1 transposons in a diploid human genome using long-read assemblies, finding at least 290 intact LINE-1s.