Author

B. M. Clark

Centre Hospitalier Universitaire Sainte-Justine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

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

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 Sylvie HameliD· 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

Florian BénitièreORCID

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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