Author

Sarah Tremblay

Université du Québec à Chicoutimi;ORCID 0009-0009-8494-3797Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Catherine LapriseiD· 1 shared Claudia MoreauiD· 1 shared Gilles-Philippe MoriniD· 1 shared Simon L GirardiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

4 top collaborators · 6 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Catherine LapriseORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 4, 2026

A population-based resource for the prioritization of rare variants of unknown significance in clinical genomics

Sarah Tremblay, Claudia Moreau, Gilles-Philippe Morin…·Simon L Girard

The paper identifies rare founder variants in a population and develops a platform for variant prioritization, showing that some pathogenic variants may be missed by conventional methods.

DOI 10.64898/2026.11.03.26367175

humanwhole-genome sequencing

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