Author

Nicholas Rafaels

University of Colorado Anschutz

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· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Assay:GWAS summary statistics· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Approach:mixed model· 1

Frequent Co-Authors

Audrey E. HendricksiD· 2 shared Christopher H. ArehartiD· 2 shared Christopher R. GignouxiD· 2 shared Kristy CrooksiD· 2 shared Nikita Pozdeyev· 2 shared Sridharan RaghavaniD· 2 shared Adelle PriceiD· 1 shared Adrian M. Stewart· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Audrey E. HendricksORCID

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2 papers

Recent·Most cited

The landscape of polygenic score prediction accuracy and transportability across the phenome in ancestrally diverse populations

Meng Hsuan Lin, Christopher H. Arehart, Simon N K Walker, Nicholas Rafaels, Kristy Crooks, Matt Fisher, Sameer Chavan, Harry Smith, Nikita Pozdeyev, Leslie A Lange, Milton Pividori, Jonathan A Shortt, Ryan M. Layer, Audrey E. Hendricks, Sridharan Raghavan, Christopher R. Gignoux

This study evaluates polygenic score prediction accuracy and cross-ancestry portability across 3,994 PGSs in diverse populations, identifying factors affecting their performance and equity.

medRxiv · Oct 11, 2026 · PreprintGenetic & Genomic Medicine

Characterizing substructure via mixture modeling in large-scale genetic summary statistics

Hayley R Stoneman, Adelle Price, Nikole Scribner Trout, Riley Lamont, Souha Tifour, Nikita V. Pozdeyev, Heather D. Anderson, Christina L. Aquilante, Kelsey Arbogast, Christopher H. Arehart, Ian M. Brooks, Tonya M. Brunetti, Judith Brutus-Lestin, Elizabeth E. Burke, Emily M. Casteel, , Katie M. Marker

Summix2 uses mixture modeling to estimate and adjust for substructure in genetic summary data, improving the robustness and equity of research using diverse datasets.

The American Journal of Human Genetics · Jan 16, 2025Peer-reviewedGenomics