Arun K. Ramani

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 35 publications

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

Journal: NPJ genomic medicine

Published: December 06, 2024

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Journal: Nature genetics

Published: October 21, 2024

Trio RNA sequencing in a cohort of medically complex children.

Trio RNA sequencing in a cohort of medically complex children.

Journal: American journal of human genetics

Published: November 28, 2022

Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing.

Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing.

Journal: The Journal of molecular diagnostics : JMD

Published: November 23, 2022

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Journal: Clinical genetics

Published: September 25, 2022

Conserved transcriptional programming across sex and species after peripheral nerve injury predicts treatments for neuropathic pain.

Conserved transcriptional programming across sex and species after peripheral nerve injury predicts treatments for neuropathic pain.

Journal: British journal of pharmacology

Published: September 02, 2022

Evaluation of single-cell RNA-seq clustering algorithms on cancer tumor datasets.

Evaluation of single-cell RNA-seq clustering algorithms on cancer tumor datasets.

Journal: Computational and structural biotechnology journal

Published: July 29, 2022

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Journal: Nature cancer

Published: June 27, 2022

Evaluation of single-cell RNAseq labelling algorithms using cancer datasets.

Evaluation of single-cell RNAseq labelling algorithms using cancer datasets.

Journal: Briefings in bioinformatics

Published: June 02, 2022

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Journal: Human mutation

Published: November 29, 2021

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.

Journal: Human mutation

Published: October 12, 2021

PhenomeCentral: 7 years of rare disease matchmaking.

PhenomeCentral: 7 years of rare disease matchmaking.

Journal: Human mutation

Published: October 06, 2021

Showing 1-12 of 35

Last Updated: 09/26/2026