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Justin Zook (Fed)

Co-Leader, Biomarker and Genomic Sciences Group

Dr. Justin Zook is co-leading the Genome in a Bottle Consortium’s work developing authoritatively characterized human genomes to benchmark sequencing methods. He developed methods to compare and integrate whole genome DNA sequencing data from multiple platforms and sequencing runs to characterize the first whole human genome Reference Materials.  He leads the GIAB Analysis Team work combining short, linked, and long read sequencing technologies to characterize structural variation and challenging regions of the genome, and recently started the Cancer GIAB project to extensively characterize a broadly-consented tumor/normal pair.  He co-led the variants team in the Telomere-to-Telomere Consortium demonstrating the utility of the first complete human genome. He was an Informatics Representative to the Association for Molecular Pathology Clinical Practice Committee, and he chaired the Global Alliance for Genomics and Health Benchmarking Team, which published best practices for benchmarking genome sequencing results in 2019. He has co-authored >80 papers, including in Science, Nature, Nature Biotechnology, Nature Methods, JAMA, and Cell Genomics, and he wrote a blog about the inspiration for his NIST work.  

Research Opportunities

NIST-NRC Postdoctoral Fellowship: 2-year fellowship at NIST, US citizens only, ~$82,000 salary plus benefits, application deadlines are Feb. 1 and Aug. 1, requires 10 page research proposal, contact me if interested in writing a proposal on a bioinformatics genomics research project. We have opportunities posted for metrology in Cancer GenomicsDiploid AssemblyEpigenomics and TranscriptomicsBiological Data Science/Machine Learning, and Precision Medicine.

Awards

Department of Commerce Gold and Silver Awards
Presidential Early Career Award for Scientists and Engineers (PECASE)
NIST Judson C. French Award
Council for Chemical Research Rising Star Award
NIST/NRC Postdoctoral Research Fellowship
NSF Graduate Research Fellowship

Publications

Small variant benchmark from a complete assembly of X and Y chromosomes

Author(s)
Justin Wagner, Nathanael Olson, Jennifer McDaniel, Lindsay Harris, Chunlin Xiao, Fritz Sedlazeck, Kishwar Shafin, Andrew Carroll, Justin Zook
The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions

Selected Blog Posts

Created September 24, 2019, Updated March 3, 2025