Mendeley | Further Information

{"title"=>"Orion: Detecting regions of the human noncoding genome that are intolerant to variation using population genetics", "type"=>"journal", "authors"=>[{"first_name"=>"Ayal B.", "last_name"=>"Gussow", "scopus_author_id"=>"53979664700"}, {"first_name"=>"Brett R.", "last_name"=>"Copeland", "scopus_author_id"=>"57195330615"}, {"first_name"=>"Ryan S.", "last_name"=>"Dhindsa", "scopus_author_id"=>"56814789700"}, {"first_name"=>"Quanli", "last_name"=>"Wang", "scopus_author_id"=>"55864746200"}, {"first_name"=>"Slavé", "last_name"=>"Petrovski", "scopus_author_id"=>"26026629300"}, {"first_name"=>"William H.", "last_name"=>"Majoros", "scopus_author_id"=>"6603351778"}, {"first_name"=>"Andrew S.", "last_name"=>"Allen", "scopus_author_id"=>"7402802442"}, {"first_name"=>"David B.", "last_name"=>"Goldstein", "scopus_author_id"=>"7402147672"}], "year"=>2017, "source"=>"PLoS ONE", "identifiers"=>{"doi"=>"10.1371/journal.pone.0181604", "sgr"=>"85027239513", "pui"=>"617752189", "scopus"=>"2-s2.0-85027239513", "issn"=>"19326203", "pmid"=>"28797091", "isbn"=>"1111111111"}, "id"=>"6162e751-1061-3afa-a3c4-bbb903352f87", "abstract"=>"There is broad agreement that genetic mutations occurring outside of the protein-coding regions play a key role in human disease. Despite this consensus, we are not yet capable of discerning which portions of non-coding sequence are important in the context of human disease. Here, we present Orion, an approach that detects regions of the non-coding genome that are depleted of variation, suggesting that the regions are intolerant of mutations and subject to purifying selection in the human lineage. We show that Orion is highly correlated with known intolerant regions as well as regions that harbor putatively pathogenic variation. This approach provides a mechanism to identify pathogenic variation in the human non-coding genome and will have immediate utility in the diagnostic interpretation of patient genomes and in large case control studies using whole-genome sequences.", "link"=>"http://www.mendeley.com/research/orion-detecting-regions-human-noncoding-genome-intolerant-variation-using-population-genetics", "reader_count"=>33, "reader_count_by_academic_status"=>{"Unspecified"=>4, "Professor > Associate Professor"=>4, "Researcher"=>10, "Student > Doctoral Student"=>2, "Student > Ph. D. Student"=>3, "Student > Master"=>3, "Other"=>3, "Student > Bachelor"=>3, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>4, "Professor > Associate Professor"=>4, "Researcher"=>10, "Student > Doctoral Student"=>2, "Student > Ph. D. Student"=>3, "Student > Master"=>3, "Other"=>3, "Student > Bachelor"=>3, "Professor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>4, "Engineering"=>2, "Biochemistry, Genetics and Molecular Biology"=>8, "Nursing and Health Professions"=>1, "Agricultural and Biological Sciences"=>13, "Medicine and Dentistry"=>2, "Chemistry"=>1, "Computer Science"=>2}, "reader_count_by_subdiscipline"=>{"Engineering"=>{"Engineering"=>2}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Chemistry"=>{"Chemistry"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>13}, "Computer Science"=>{"Computer Science"=>2}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>8}, "Unspecified"=>{"Unspecified"=>4}}, "group_count"=>1}

CrossRef

• http://doi.org/10.1038/s41467-019-13212-3
• http://doi.org/10.1007/s00439-020-02190-y
• http://doi.org/10.1371/journal.pone.0191298
• http://doi.org/10.1007/s00439-020-02179-7
• http://doi.org/10.1007/s00439-019-02091-9
• http://doi.org/10.2217/pme-2018-0065
• http://doi.org/10.1038/s41467-021-21790-4
• http://doi.org/10.1038/s12276-018-0087-0
• http://doi.org/10.1093/hmg/ddy115

Scopus | Further Information

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• {"unique-ip"=>"28", "full-text"=>"31", "pdf"=>"4", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"10"}
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• {"unique-ip"=>"7", "full-text"=>"7", "pdf"=>"2", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"12"}
• {"unique-ip"=>"8", "full-text"=>"7", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2021", "month"=>"1"}
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F1000Prime