Author

Emily M. Price

University of OttawaORCID 0000-0003-0203-9550Unclaimed 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· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:machine learning (classical)· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Madeline CouseiD· 2 shared Taila HartleyiD· 2 shared Amy Pan· 1 shared Ana S.A. CoheniD· 1 shared Andrei Turinsky· 1 shared Anjali JainiD· 1 shared Bhooma Thiruvahindrapura· 1 shared Bushra HaqueiD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Madeline CouseORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 3, 2024

One-Sided Matching Portal (OSMP): a tool to facilitate rare disease patient matchmaking

Matthew Osmond, Emily M. Price, Orion J. Buske…·Kym M Boycott

The paper introduces OSMP, a tool for one-sided genomic matchmaking in rare disease patients, which efficiently filters variant occurrences to prioritize clinically relevant matches.

1 citation

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintMar 11, 2024

Leveraging cancer mutation data to predict the pathogenicity of germline missense variants

Bushra Haque, David Cheerie, Amy Pan…·Gregory Costain

This study uses cancer mutation data and machine learning to predict the pathogenicity of germline missense variants, showing strong performance in identifying disease-causing variants.

DOI 10.1101/2024.03.11.24304106

humanwhole-exome sequencing

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