Author

Anna C. Raper

University of Pennsylvania

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

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Elizabeth ChaoiD· 2 shared Aaron R. QuinlaniD· 1 shared Abdul Aziz ElkadriiD· 1 shared Adam C. ElNaggariD· 1 shared Adeline L. VanderveriD· 1 shared Adriana P. RebeloiD· 1 shared Alan H. BeggsiD· 1 shared Albert R. La SpadaiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Elizabeth ChaoORCID

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2 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

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Anton Mikhailovich Safonov, Tomoki T. Nomakuchi, Elizabeth Chao, Carolyn Horton, Jill S. Dolinsky, Amal Yussuf, Marcy E. Richardson, Virginia Speare, Shuwei Li, Zoe C. Bogus, Maria Bonanni, Anna C. Raper, Trust Odia, Bradley Stephen Wubbenhorst, Elsa Faulders, , Theodore G. Drivas

The paper identifies a higher prevalence of NF1 pathogenic variants using a genotype-first approach, finding many cases with somatic mosaicism and increased cancer risk.

Nature Communications · Apr 1, 2025Peer-reviewedGenetic & Genomic Medicine