Eric T. Dawson

This study analyzes acral melanoma genomes and transcriptomes from Mexican patients, finding ancestry-related mutation patterns and survival differences.

The paper accelerates Minimap2 for long read alignment on GPUs by optimizing the chaining step, achieving significant speedup and cost reduction.

A C++ library plus 83 command line utilities and 44 scripts (vcflib) for filtering, transforming and computing population-genetic statistics on VCF files, with companion tools bio-vcf, slivar, cyvcf2 and hts-nim.

The paper introduces SVCurator, a crowdsourcing app for evaluating structural variants in the human genome, finding high concordance among curators and with existing benchmarks.

The paper demonstrates that variation graphs using the vg toolkit improve structural variant genotyping compared to traditional methods and VCF-based catalogs.

The paper introduces vg, a toolkit for creating and using variation graphs as genome references, improving read mapping and variant calling accuracy over linear references.