Author

Bashayer R Al-Mubarak

King Faisal Specialist Hospital & Research CentreORCID 0000-0001-9716-3241Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Approach:deep learning· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew SingletoniD· 1 shared Behloul Soundous MalekiD· 1 shared Breeana BakeriD· 1 shared Cedric KouamiD· 1 shared Cornelis BlauwendraatiD· 1 shared Dan VitaleiD· 1 shared Hampton L. LeonardiD· 1 shared Huw R. MorrisiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Andrew SingletonORCID

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1 paper

Recent·Most cited

BioinformaticsDIGITAL.CSIC (Spanish National Research Council (CSIC))Peer-reviewedJan 1, 2026

CNV-Finder: Streamlining Copy Number Variation Discovery

Nicole Kuznetsov, Kensuke Daida, Mary B. Makarious…·Dan Vitale

CNV-Finder uses deep learning to detect copy number variations from array data, improving accuracy and reducing manual workload for downstream analyses.

DOI 10.1093/bioadv/vbag205

humanwhole-genome sequencing

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