Author

Anjene Musick

National Institutes of Health

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· 4 Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 6 Approach:statistical model· 5 Assay:whole-genome sequencing· 5 Research Focus:benchmarking· 3 Assay:electronic health records· 2 Research Focus:GWAS / association mapping· 2 Research Focus:variant calling· 2 Approach:benchmark study· 1

Frequent Co-Authors

Philip E. EmpeyiD· 4 shared Richard A. GibbsiD· 4 shared Dan M. RodeniD· 3 shared Eric VenneriD· 3 shared Jason H. KarnesiD· 3 shared Joshua C. DennyiD· 3 shared Karynne PattersoniD· 3 shared Kimberly WalkeriD· 3 shared

Activity by Year

2022-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Philip E. EmpeyORCID

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Author profile →

6 papers

Recent·Most cited

Systematic common and rare variant association testing in 392,030 whole genomes in All of Us

Wenhan Lu, Robert J. Carroll, Matthew Solomonson, Jérémy Guez, Megan K. He, Daniel Marten, Alejandro Martínez-Carrasco, Ying Wang, Connor S. Dowd, Masahiro Kanai, Bram L. Gorissen, Aymone Kouame, James Brogan, Bennett J. Waxse, Ryan Samarakoon, , Konrad J. Karczewski

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

medRxiv · May 12, 2026 · PreprintGenetic & Genomic Medicine

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac R. L. Xu, Marie‐Josée Dicaire, Guinevere Spurdens, Gabriel E. Matos-Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana P. Rebelo, Virginie Roth, Marion Wandzel, , Alba Sanchis‐Juan

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

Nature Genetics · Jun 27, 2024Peer-reviewedGenetics

Frequency of pharmacogenomic variation and medication exposures among All of Us Participants

Andrew Haddad, Aparna Radhakrishnan, Sean R. McGee, Joshua D. Smith, Jason H. Karnes, Eric Venner, Marsha M. Wheeler, Karynne Patterson, Kimberly Walker, Divya Kalra, Sara E. Kalla, Qiaoyan Wang, Richard A. Gibbs, Gail Pairitz Jarvik, Janeth I. Sanchez, , Philip E. Empey

The paper assesses pharmacogenomic variation and medication exposures in a diverse cohort using whole genome sequencing and EHR data, finding high prevalence of actionable variants and previously unreported alleles.

medRxiv · Jun 12, 2024 · PreprintGenetic & Genomic Medicine

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Eric Venner, Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi–Ju Chen, Sara E. Kalla, Bo Yuan, Jason H. Karnes, Kimberly Walker, Joshua D. Smith, Sean R. McGee, Aparna Radhakrishnan, Andrew Haddad, Philip E. Empey, Qiaoyan Wang, , May Okihiro

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

Communications Biology · Feb 19, 2024Peer-reviewedGenetic & Genomic Medicine

Cloud gazing: demonstrating paths for unlocking the value of cloud genomics through cross-cohort analysis

Nicole A. Deflaux, Margaret Sunitha Selvaraj, Henry Robert Condon, Kelsey Mayo, Sara Haidermota, Melissa Basford, Chris Lunt, Anthony Philippakis, Dan M. Roden, Joshua C. Denny, Anjene Musick, Rory Collins, Naomi E. Allen, Mark Effingham, David Glazer, , Alexander G. Bick

This study compares meta-analysis and pooled analysis approaches in cross-cohort GWAS of lipid measures, finding method-specific variants and implications for TRE design and analysis.

bioRxiv · Nov 29, 2022 · PreprintGenetics

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Eric Venner, Donna Marie Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood, Philip E. Empey, Ginger Metcalf, C. Kachulis, Sana Mian, Anjene Musick, Heidi L. Rehm, Steven M. Harrison, Stacey Gabriel, Richard A. Gibbs, , Niall J. Lennon

The paper describes the process of obtaining an FDA IDE for returning genomic results via WGS in the All of Us Research Program and presents validation results.

Genome Medicine · Mar 28, 2022Peer-reviewedGenetic & Genomic Medicine