Author

George F. Guirguis

University of TorontoORCID 0000-0003-2049-387XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Organism:non-human primate· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bushra HaqueiD· 2 shared Gregory CostainiD· 2 shared Susan WalkeriD· 2 shared Adam ShlieniD· 1 shared Ali AlMailiD· 1 shared Bhooma ThiruvahindrapuramiD· 1 shared Christian R. MarshalliD· 1 shared David CheerieiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bushra HaqueORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedMar 20, 2024

A comparative medical genomics approach may facilitate the interpretation of rare missense variation

Bushra Haque, George F. Guirguis, Meredith Curtis…·Gregory Costain

The paper compares pathogenicity features of missense variants in non-human livestock to human genomic data, finding higher odds of pathogenic classification in cross-species variants.

5 citations

non-human primatewhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJun 29, 2023

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

Rachel Youjin Oh, Ali AlMail, David Cheerie…·Gregory Costain

The paper assesses the impact of rare canonical splice site variants on splicing using functional and in silico methods, finding that 24% of variants do not cause loss-of-function.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky