Author
University of California, Los AngelesORCID 0000-0003-4154-455XUnclaimed ORCID profile · follow to get notified of new preprints
5 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.
Roni Haas, Michael P. Margolis, Angela Wei…·Daniel H. Geschwind
The paper analyzes genetic and health record data from a diverse population to uncover gene-phenotype associations and assess polygenic score performance across ancestries.
Yash Patel, Chenghao Zhu, Takafumi N. Yamaguchi…·Paul Christopher Boutros
Metapipeline-DNA automates comprehensive analysis of DNA sequencing data from raw reads to visualization, supporting germline and somatic genomic features.
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.