Author

Alistair N. Ward

University of Utah

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 2

Signature Assays, Organisms & Methods

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Assay:whole-genome sequencing· 4 Research Focus:variant calling· 3 Research Focus:variant effect prediction· 3 Assay:whole-exome sequencing· 3 Research Focus:benchmarking· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2

Frequent Co-Authors

Gábor MarthiD· 3 shared Aditya Ekawade· 2 shared Ashley AndrewsiD· 2 shared Chase Miller· 2 shared Matt VelinderiD· 2 shared Yi Qiao· 2 shared Aaron M. WengeriD· 1 shared Aaron R. QuinlaniD· 1 shared

Activity by Year

2019-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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3 shared papersGenomics

Gábor MarthORCID

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Author profile →

4 papers

Recent·Most cited

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Isabelle B. Cooperstein, Shruti Marwaha, Alistair N. Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network, Aaron R. Quinlan, Abdul Aziz Elkadri, Adeline L. Vanderver, Adriana P. Rebelo, Alan H. Beggs, Albert R. La Spada, Alden Huang, Alex Paul, Alexander Miller, , Emily Glanton

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

Genome Medicine · Oct 21, 2025Peer-reviewedGenetic & Genomic Medicine

gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

Tonya Di Sera, Matt Velinder, Alistair N. Ward, Yi Qiao, Stephanie J. Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David H. Viskochil, John C. Carey, Laura Pace, Jim Bale, Stacey Lynn Clardy, Ashley Andrews, , Gábor Marth

gene.iobio is a web tool that enables clinicians and researchers to interactively analyze and prioritize genomic variants for clinical diagnosis and patient care.

Scientific Reports · Oct 13, 2021Peer-reviewedGenetic & Genomic Medicine

genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists

Aditya Ekawade, Matt Velinder, Alistair N. Ward, Tonya DiSera, Chase Miller, Yi Qiao, Gábor Marth

genepanel.iobio generates disease- and phenotype-associated gene lists by integrating multiple gene:disease resources, improving diagnostic variant prioritization in undiagnosed cases.

BMC Medical Genomics · Dec 1, 2019Peer-reviewedGenomics

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Mark Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubskỳ, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev N. Kronenberg, , Charles Lee

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

Nature Communications · Apr 16, 2019Peer-reviewedGenomics