Human copy number variants are enriched in regions of low mappability

Author:

Monlong Jean12ORCID,Cossette Patrick3,Meloche Caroline3,Rouleau Guy4,Girard Simon L135,Bourque Guillaume126

Affiliation:

1. Department of Human Genetics, McGill University, Montréal H3A 1B1, Canada

2. Canadian Center for Computational Genomics, Montréal H3A 1A4, Canada

3. Centre de Recherche du Centre Hospitalier de l’Universite de Montréal, Montréal H2X 0A9, Canada

4. Montreal Neurological Institute, McGill University, Montréal H3A 2B4, Canada

5. Département des sciences fondamentales, Université du Québec à Chicoutimi, Chicoutimi G7H 2B1, Canada

6. McGill University and Génome Québec Innovation Center, Montréal H3A 1A4, Canada

Funder

National Sciences and Engineering Research Council

Canadian Institute for Health Research

Fonds de Recherche Santé Québec

Publisher

Oxford University Press (OUP)

Subject

Genetics

Reference70 articles.

1. Detection and interpretation of genomic structural variation in mammals;Hall,2012

2. Structural variation of the human genome;Sharp;Annu. Rev. Genomics Hum. Genet.,2006

3. Mapping copy number variation by population-scale genome sequencing;Mills;Nature,2011

4. Towards a comprehensive structural variation map of an individual human genome;Pang;Genome Biol.,2010

5. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn’s disease;McCarroll;Nat. Genet.,2008

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