Author

Lamia Alsubaie

Taibah UniversityORCID 0000-0001-8864-8407Unclaimed 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 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmed A. AlfaresiD· 1 shared Azza AlthagafiiD· 1 shared Fuad Al MutairiiD· 1 shared Katsuhiko MinetaiD· 1 shared Majid AlfadheliD· 1 shared Nagarajan KathiresaniD· 1 shared Robert HoehndorfiD· 1 shared Taghrid AlorainiiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperBioinformatics

Ahmed A. AlfaresORCID

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1 paper

Recent·Most cited

BioinformaticsBioinformaticsPeer-reviewedDec 21, 2021

DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning

Azza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan…·Robert Hoehndorf

DeepSVP prioritizes pathogenic structural variants by integrating genotype and phenotype data using deep learning, improving benchmark performance and identifying novel variants in consanguineous families.

16 citations

humanwhole-genome sequencing

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