Author

Andrew J. Catomeris

Georgetown UniversityORCID 0000-0002-3355-0178Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Brian S. ColeiD· 1 shared Broad CMG· 1 shared Charles Ferguson· 1 shared Eglė GaldikaitėiD· 1 shared Eleina M. England· 1 shared Emily PlaceiD· 1 shared Eric A. PierceiD· 1 shared Erin ZampaglioneiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Brian S. ColeORCID

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1 paper

Recent·Most cited

The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

Erin Zampaglione, Matthew Maher, Emily Place, Naomi E. Wagner, Stephanie P. DiTroia, Katherine R. Chao, Eleina M. England, Broad CMG, Andrew J. Catomeris, Sherwin Nassiri, Seraphim Himes, Joey Pagliarulo, Charles Ferguson, Eglė Galdikaitė, Brian S. Cole, , Kinga M. Bujakowska

The paper introduces MATK, an automated variant ranking tool for Mendelian disease diagnosis, showing it identifies most expert solutions and finds additional variants in unsolved cases.

Genetics in Medicine · Nov 30, 2021Peer-reviewedGenetic & Genomic Medicine