Author

Megan N. Frone

National Cancer InstituteORCID 0000-0001-8273-8866Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

D. Gareth EvansiD· 2 shared Paul Andrew JamesiD· 2 shared Phuong L. MaiiD· 2 shared Aðalgeir ArasoniD· 1 shared Agnieszka Dansonka‐MieszkowskaiD· 1 shared Aleksandra Gentry‐MaharajiD· 1 shared Aliana Guerrieri‐GonzagaiD· 1 shared Alicia M. Golden· 1 shared

Activity by Year

2020-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

D. Gareth EvansORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 9, 2024

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes

Jung Kim, Gina M. Ney, Megan N. Frone…·Douglas R. Stewart

This study quantifies cancer risk and prevalence in adults with germline pathogenic variants in RASopathy genes using genomic data from three biobanks.

1 citation

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintFeb 29, 2024

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk

Daniel R. Barnes, Jonathan P. Tyrer, Joe Dennis…·Kirsten B. Moysich

This study identifies seven novel genetic loci associated with high-grade serous ovarian cancer risk using a large-scale GWAS and develops polygenic scores for improved risk prediction.

3 citations

humanGWAS summary statistics

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Genetic & Genomic MedicineHuman MutationPeer-reviewedDec 10, 2020

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Cristina Fortuño, Kristy Lee, Magali Olivier…·the ClinGen TP53 Variant Curation Expert Panel

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

170 citationstop 1%

humanwhole-exome sequencing

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