Author

Ali AlMail

University of TorontoORCID 0000-0002-0918-8017Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Gregory CostainiD· 2 shared Adam ShlieniD· 1 shared Ahmed A. JamjoomiD· 1 shared Alissa M. D’GamaiD· 1 shared Amy McTagueiD· 1 shared Amy Y. PaniD· 1 shared Annapurna PoduriiD· 1 shared Anne S. BassettiD· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gregory CostainORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 13, 2023

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

Ali AlMail, Ahmed A. Jamjoom, Amy Y. Pan…·Gregory Costain

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

1 citation

humanstatistical model

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