Author

Nancy Hamel

Research Institute of the McGill University Health CentreORCID 0000-0001-8971-0428Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Nancy Hamel1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Research Focus:imputation· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

William David FoulkesiD· 3 shared Carla Daniela Robles‐EspinozaiD· 2 shared José Camacho ValenzuelaiD· 2 shared Paz P PolakiD· 2 shared Simon GraveliD· 2 shared Adam J. ShapiroiD· 1 shared Afrida AhmediD· 1 shared Alejandro Mejía‐GarcíaiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

William David FoulkesORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 25, 2026

Differential causative effects of germline pathogenic variants in MUTYH and PALB2 in a patient with colorectal polyposis and breast cancer

José Camacho Valenzuela, Dylan Pelletier, Paz P Polak…·William David Foulkes

The paper investigates the differential contributions of MUTYH and PALB2 germline variants to colorectal polyposis and breast cancer using mutational signatures in a single patient.

DOI 10.64898/2026.05.15.26352890

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintOct 22, 2025

A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair deficient breast cancer

José Camacho Valenzuela, Thibaut Matis, Carla Roca…·William David Foulkes

The paper develops a genomic framework to identify genes predisposing to homologous recombination repair deficient breast cancer by integrating mutational signatures, exome data, and clinical-genomic analysis.

DOI 10.1101/2025.10.22.25338181

humanwhole-exome sequencing

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GeneticsbioRxivPreprintMar 13, 2025

Using the ancestral recombination graph to study the history of rare variants in founder populations

Alejandro Mejía‐García, Alex Diaz-Papkovich, Guillaume Sillon…·Simon Gravel

This paper uses ancestral recombination graphs to impute and trace rare variants in founder populations, showing high accuracy in mutation age and regional frequency estimation.

6 citations

humanwhole-genome sequencing

𝕏 PostBluesky