Author

Mafalda Dias

Harvard UniversityORCID 0000-0003-0128-9697Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Mafalda Dias1 paper · Instituto de Biologia Experimental e Tecnológica

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:database / resource· 1 Approach:deep learning· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Debora S. MarksiD· 2 shared Jonathan FrazeriD· 2 shared Joseph MiniD· 2 shared Abbye E. McEweniD· 1 shared Aidan N. GomeziD· 1 shared Aisha Haley BianchiiD· 1 shared Alan F. RubiniD· 1 shared Amy TamiD· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenomics

Debora S. MarksORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintNov 29, 2021

MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays

Alan F. Rubin, Joseph Min, Nathan J. Rollins…·Douglas M. Fowler

MaveDB v2 curates over three million variant effects from MAVE studies to facilitate analysis and dissemination of functional assay data.

23 citations

GWAS summary statisticsbenchmark study

𝕏 PostBluesky

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

𝕏 PostBluesky