Author

Alba Gutiérrez‐Sacristán

Harvard UniversityORCID 0000-0002-1245-198XUnclaimed 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:machine learning (classical)· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Paul AvillachiD· 1 shared Rui YiniD· 1 shared Shilpa N. KobreniD· 1 shared Undiagnosed Diseases Network· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

4 top collaborators · 6 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Paul AvillachORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 15, 2024

VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders

Rui Yin, Alba Gutiérrez‐Sacristán, Undiagnosed Diseases Network…·Paul Avillach

VarPPUD improves the prioritization of pathogenic variants in undiagnosed genetic disorders by distinguishing likely from unlikely disease-causing variants using machine learning.

DOI 10.1101/2024.04.15.24305876

humanwhole-genome sequencing

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