Author

Caroline Meloche

Centre Hospitalier de l’Université de Montréal

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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Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Guillaume BourqueiD· 2 shared Guy Armand RouleauiD· 2 shared Jean MonlongiD· 2 shared Patrick Cossette· 2 shared Simon GirardiD· 2 shared Alexandre Dionne‐Laporte· 1 shared Berge Arakel MinassianiD· 1 shared Cyrus G. BoelmaniD· 1 shared

Activity by Year

2018-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Guillaume BourqueORCID

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2 papers

Recent·Most cited

Human copy number variants are enriched in regions of low mappability

Jean Monlong, Patrick Cossette, Caroline Meloche, Guy Armand Rouleau, Simon Girard, Guillaume Bourque

The paper identifies recurrent copy number variants in low-mappability regions using PopSV, finding they are 5 times more common in germline than somatic CNVs.

Nucleic Acids Research · Jun 12, 2018Peer-reviewedGenomics

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Jean Monlong, Simon Girard, Caroline Meloche, Maxime Cadieux‐Dion, Danielle Molinari Andrade, Ron G. Lafrenière, Micheline Gravel, Dan Spiegelman, Alexandre Dionne‐Laporte, Cyrus G. Boelman, Fadi F. Hamdan, Jacques L. Michaud, Guy Armand Rouleau, Berge Arakel Minassian, Guillaume Bourque, Patrick Cossette

This study uses whole-genome sequencing and a new algorithm to comprehensively characterize copy number variants in epilepsy patients and controls, finding enrichment of rare exonic and non-coding variants.

PLoS Genetics · Apr 12, 2018Peer-reviewedGenomics