Author
Illumina (United Kingdom)ORCID 0009-0009-8269-5160Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Justin Wagner, Ayşe Gökçe Keşküş, Keisuke K. Oshima…·Justin M. Zook
This paper presents near-complete, haplotype-resolved assemblies of a pancreatic cancer genome and normal tissue, identifying extensive somatic variants and epigenetic changes in previously excluded regions.
Justin Wagner, Nathan D. Olson, Jennifer McDaniel…·Justin M. Zook
The paper creates a variant benchmark for X and Y chromosomes using a complete assembly of HG002, highlighting challenges in variant detection in complex regions.
Camille A. Daniels, Adetola Abdulkadir, Megan H. Cleveland…·Nathan D. Olson
The paper develops a benchmark for detecting low-frequency mosaic variants in the HG002 reference material using high-coverage sequencing data and validates its utility across multiple technologies.
Konrad Scheffler, Severine Catreux, Taylor O’Connell…·Rami Mehio
The paper introduces DRAGEN's somatic variant calling pipeline, demonstrating its speed and accuracy in whole-genome sequencing tumor-normal analysis compared to existing tools.