Author

Carolyn Horton

Ambry Genetics (United States)ORCID 0000-0001-5186-6208Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 3 Assay:whole-exome sequencing· 2 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Marcy E. RichardsoniD· 2 shared Tina F. PesaraniD· 2 shared A L Dunne· 1 shared A. Andreou· 1 shared A. Ansari· 1 shared A. Carter· 1 shared A. Cartwright· 1 shared A. Hadonou· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Marcy E. RichardsonORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 5, 2025

Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer

Sophie Allen, Charlie F Rowlands, Samantha Butler…·Catarina Olimpio

The paper quantifies phenotypic specificity of rare FH variants in HLRCC and renal cancer using likelihood ratios from clinical and population data.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedApr 1, 2025

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

Anton Mikhailovich Safonov, Tomoki T. Nomakuchi, Elizabeth Chao…·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.

23 citationstop 1%

humanwhole-exome sequencing

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GeneticsBMC BioinformaticsPeer-reviewedSep 6, 2024

Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect

John Michael O. Rañola, Carolyn Horton, Tina F. Pesaran…·Brian H. Shirts

The paper introduces an information content score to quantify the clinical value of MAVEs, showing it captures more information than just reclassifying variants.

1 citation

humanGWAS summary statistics

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