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

GenomicsNucleic Acids ResearchPeer-reviewedJun 12, 2018

Human copy number variants are enriched in regions of low mappability

Jean Monlong, Patrick Cossette, Caroline Meloche…·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.

46 citationstop 5%

humanwhole-genome sequencing

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GenomicsPLoS GeneticsPeer-reviewedApr 12, 2018

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

Jean Monlong, Simon Girard, Caroline Meloche…·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.

54 citationstop 3%

humanwhole-genome sequencing

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