Robert M. Eveleigh

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 25 publications

Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada's national platform for genome sequencing and analysis.

Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada's national platform for genome sequencing and analysis.

Journal: Frontiers in genetics

Published: April 22, 2026

Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.

Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.

Journal: Genome biology

Published: June 10, 2025

Genomic analysis defines distinct pancreatic and neuronal subtypes of lung carcinoid.

Genomic analysis defines distinct pancreatic and neuronal subtypes of lung carcinoid.

Journal: The Journal of pathology

Published: February 02, 2024

A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.

A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.

Journal: NPJ genomic medicine

Published: May 12, 2023

Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.

Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.

Journal: Journal of neurosurgery. Pediatrics

Published: August 09, 2022

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Published: June 19, 2022

TreeTuner: A pipeline for minimizing redundancy and complexity in large phylogenetic datasets.

TreeTuner: A pipeline for minimizing redundancy and complexity in large phylogenetic datasets.

Journal: STAR protocols

Published: March 04, 2022

HLA-B07:02 and HLA-C07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure.

HLA-B07:02 and HLA-C07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure.

Journal: The pharmacogenomics journal

Published: July 23, 2021

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.

Journal: medRxiv : the preprint server for health sciences

Published: January 05, 2021

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.

Journal: Cell genomics

Published: December 07, 2020

A Distributed Whole Genome Sequencing Benchmark Study.

A Distributed Whole Genome Sequencing Benchmark Study.

Journal: Frontiers in genetics

Published: September 30, 2020

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.

Journal: Journal of medical genetics

Published: September 10, 2020

Showing 1-12 of 25

Last Updated: 09/26/2026