Author

Aidan N. Gomez

University of OxfordORCID 0000-0001-5601-5437Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:deep learning· 1 Assay:DNA methylation· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Debora S. MarksiD· 1 shared Jonathan FrazeriD· 1 shared Joseph MiniD· 1 shared Kelly P. BrockiD· 1 shared Mafalda DiasiD· 1 shared Pascal NotiniD· 1 shared Yarin GaliD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Debora S. MarksORCID

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1 paper

Recent·Most cited

GeneticsNaturePeer-reviewedOct 27, 2021

Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning

Jonathan Frazer, Pascal Notin, Mafalda Dias…·Debora S. Marks

The paper predicts the pathogenicity of 11 million genetic variants across 1,081 disease genes using a deep learning model that leverages evolutionary data instead of clinical labels.

792 citationstop 1%

humanDNA methylation

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