Global characterization of copy number variants in epilepsy patients from whole genome sequencing
Publication Date
April 12, 2018
Authors
Jean Monlong, Simon L. Girard, Caroline Meloche, Maxime Cadieux Dion, et al
Volume
14
Issue
4
Pages
e1007285
DOI
https://dx.plos.org/10.1371/journal.pgen.1007285
Publisher URL
http://journals.plos.org/plosgenetics/article?id=10.1371%2Fjournal.pgen.1007285
Scopus
85046430387
Mendeley
http://www.mendeley.com/research/global-characterization-copy-number-variants-epilepsy-patients-whole-genome-sequencing
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Mendeley | Further Information

{"title"=>"Global characterization of copy number variants in epilepsy patients from whole genome sequencing", "type"=>"journal", "authors"=>[{"first_name"=>"Jean", "last_name"=>"Monlong"}, {"first_name"=>"Simon L", "last_name"=>"Girard"}, {"first_name"=>"Caroline", "last_name"=>"Meloche"}, {"first_name"=>"Maxime", "last_name"=>"Cadieux-Dion"}, {"first_name"=>"Danielle M", "last_name"=>"Andrade"}, {"first_name"=>"Ron G", "last_name"=>"Lafreniere"}, {"first_name"=>"Micheline", "last_name"=>"Gravel"}, {"first_name"=>"Dan", "last_name"=>"Spiegelman"}, {"first_name"=>"Alexandre", "last_name"=>"Dionne-Laporte"}, {"first_name"=>"Cyrus", "last_name"=>"Boelman"}, {"first_name"=>"Fadi F", "last_name"=>"Hamdan"}, {"first_name"=>"Jacques L", "last_name"=>"Michaud"}, {"first_name"=>"Guy", "last_name"=>"Rouleau"}, {"first_name"=>"Berge A", "last_name"=>"Minassian"}, {"first_name"=>"Guillaume", "last_name"=>"Bourque"}, {"first_name"=>"Patrick", "last_name"=>"Cossette"}], "year"=>2018, "source"=>"PLOS Genetics", "identifiers"=>{"issn"=>"15537404", "sgr"=>"85046430387", "doi"=>"10.1371/journal.pgen.1007285", "scopus"=>"2-s2.0-85046430387", "isbn"=>"1111111111", "pui"=>"622014718"}, "id"=>"88a21322-a780-3846-b9ce-aabb89bc2c3d", "abstract"=>"Author summary Epilepsy is a common neurological disorder affecting around 3% of the population. In some cases, epilepsy is caused by brain trauma or other brain anomalies but there are often no clear causes. Genetic factors have been associated with epilepsy in the past such as rare genetic variations found by linkage studies as well as common genetic variations found by genome-wide association studies and large copy-number variants. We sequenced the genome of ∼200 epilepsy patients and ∼300 healthy controls and compared the distribution of deletion (loss of a copy) and duplication (additional copy) of genomic regions. Thanks to the sequencing technology and a new method that takes advantage of the large sample size, we could compare the distribution of small copy-number variants between epilepsy patients and controls. Overall, we found that small variants are also associated with epilepsy. Indeed, the genome of epilepsy patients had more exonic copy-number variants, especially when rare or affecting genes with predicted loss-of-function intolerance. Focusing on regions around genes that have been previously associated with epilepsy, we also found more non-coding variants in epilepsy patients, especially deletions or variants in regulatory regions. Finally, we provide a list of 21 regions in which we found likely pathogenic variants.", "link"=>"http://www.mendeley.com/research/global-characterization-copy-number-variants-epilepsy-patients-whole-genome-sequencing", "reader_count"=>6, "reader_count_by_academic_status"=>{"Researcher"=>3, "Student > Ph. D. Student"=>2, "Professor"=>1}, "reader_count_by_user_role"=>{"Researcher"=>3, "Student > Ph. D. Student"=>2, "Professor"=>1}, "reader_count_by_subject_area"=>{"Biochemistry, Genetics and Molecular Biology"=>3, "Agricultural and Biological Sciences"=>1, "Medicine and Dentistry"=>1, "Unspecified"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>3}, "Unspecified"=>{"Unspecified"=>1}}, "group_count"=>0}

Scopus | Further Information

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