Author

Sylvie Hamel

Université de MontréalORCID 0000-0002-8941-2284Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

B. M. Clark· 2 shared Florian BénitièreiD· 2 shared Guillaume HuguetiD· 2 shared Kuldeep KumariD· 2 shared Mame Seynabou DiopiD· 2 shared Martineau Jean‐LouisiD· 2 shared Sébastien JacquemontiD· 2 shared Audrey LemaçoniD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

9 top collaborators · 35 mutual co-author links

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2 shared papersBioinformatics

B. M. Clark

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2 papers

Recent·Most cited

gVCF2CNV: a scalable pipeline for CNV detection from whole-genome sequencing data

Mame Seynabou Diop, Florian Bénitière, Kuldeep Kumar, B. M. Clark, Martineau Jean‐Louis, Zohra Saci, Guillaume Huguet, Sylvie Hamel, Sébastien Jacquemont

gVCF2CNV converts gVCF files into CNV-compatible signals for large-scale WGS cohorts, achieving high precision in detecting deletions and duplications.

bioRxiv · Sep 6, 2026 · PreprintBioinformatics

MCNV2 (Mendelian CNV Validation): Mendelian Precision for CNV quality assessment

Mame Seynabou Diop, Audrey Lemaçon, Kuldeep Kumar, B. M. Clark, Guillaume Huguet, Florian Bénitière, Martineau Jean‐Louis, Sylvie Hamel, Sébastien Jacquemont

MCNV2 assesses CNV quality using Mendelian Precision, offering tools to compute, explore, and optimize CNV call accuracy in parent-offspring trios.

bioRxiv · May 3, 2026 · PreprintGenetics