{"id":"https://openalex.org/W2042004678","doi":"https://doi.org/10.1093/nar/gkn641","title":"Modeling genetic inheritance of copy number variations","display_name":"Modeling genetic inheritance of copy number variations","publication_year":2008,"publication_date":"2008-10-02","ids":{"openalex":"https://openalex.org/W2042004678","doi":"https://doi.org/10.1093/nar/gkn641","mag":"2042004678","pmid":"https://pubmed.ncbi.nlm.nih.gov/18832372","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2588508"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkn641","doi":"https://doi.org/10.1093/nar/gkn641","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkn641","pdf_url":"https://academic.oup.com/nar/article-pdf/36/21/e138/16748790/gkn641.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/nar/article-pdf/36/21/e138/16748790/gkn641.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Kai Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Kai Wang","raw_affiliation_strings":["Department of Genetics, Division of Human Genetics, Center for Applied Genomics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA. wangk@chop.edu","Department of Genetics, Division of Human Genetics, Center for Applied Genomics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Division of Human Genetics, Center for Applied Genomics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA. wangk@chop.edu","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Genetics, Division of Human Genetics, Center for Applied Genomics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002718933","display_name":"Zhen Chen","orcid":"https://orcid.org/0000-0002-9946-1362","observed_orcids":["https://orcid.org/0000-0002-9946-1362","https://orcid.org/0009-0007-7842-5446"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I184565670","display_name":"Georgetown University","ror":"https://ror.org/05vzafd60","country_code":"US","type":"education","lineage":["https://openalex.org/I184565670"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zhen Chen","raw_affiliation_strings":["Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","Children's Hospital of Philadelphia, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I184565670","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086793581","display_name":"Mahlet G. Tadesse","orcid":"https://orcid.org/0000-0003-2671-1663","observed_orcids":["https://orcid.org/0000-0003-2671-1663"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I184565670","display_name":"Georgetown University","ror":"https://ror.org/05vzafd60","country_code":"US","type":"education","lineage":["https://openalex.org/I184565670"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mahlet G. Tadesse","raw_affiliation_strings":["Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","Children's Hospital of Philadelphia, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I184565670","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066789855","display_name":"Joseph Glessner","orcid":"https://orcid.org/0000-0001-5131-2811","observed_orcids":["https://orcid.org/0000-0001-5131-2811"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I184565670","display_name":"Georgetown University","ror":"https://ror.org/05vzafd60","country_code":"US","type":"education","lineage":["https://openalex.org/I184565670"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joseph Glessner","raw_affiliation_strings":["Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","Children's Hospital of Philadelphia, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I184565670","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069461209","display_name":"Struan F.A. Grant","orcid":"https://orcid.org/0000-0003-2025-5302","observed_orcids":["https://orcid.org/0000-0003-2025-5302"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I184565670","display_name":"Georgetown University","ror":"https://ror.org/05vzafd60","country_code":"US","type":"education","lineage":["https://openalex.org/I184565670"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Struan F. A. Grant","raw_affiliation_strings":["Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","Children's Hospital of Philadelphia, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I184565670","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088244425","display_name":"Hakon H. Hakonarson","orcid":"https://orcid.org/0000-0003-2814-7461","observed_orcids":["https://orcid.org/0000-0003-2814-7461"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I184565670","display_name":"Georgetown University","ror":"https://ror.org/05vzafd60","country_code":"US","type":"education","lineage":["https://openalex.org/I184565670"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hakon Hakonarson","raw_affiliation_strings":["Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","Children's Hospital of Philadelphia, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I184565670","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103465140","display_name":"Maja Bu\u0107an","orcid":"https://orcid.org/0000-0002-5684-1736","observed_orcids":["https://orcid.org/0000-0002-5684-1736"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I184565670","display_name":"Georgetown University","ror":"https://ror.org/05vzafd60","country_code":"US","type":"education","lineage":["https://openalex.org/I184565670"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maja Bucan","raw_affiliation_strings":["Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","Children's Hospital of Philadelphia, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I184565670","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, United States","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001685590","display_name":"Mingyao Li","orcid":"https://orcid.org/0000-0003-2422-9494","observed_orcids":["https://orcid.org/0000-0003-2422-9494","https://orcid.org/0000-0001-8180-0621"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I184565670","display_name":"Georgetown University","ror":"https://ror.org/05vzafd60","country_code":"US","type":"education","lineage":["https://openalex.org/I184565670"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mingyao Li","raw_affiliation_strings":["Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","Children's Hospital of Philadelphia, Philadelphia, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Pennsylvania, 2 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, 3 Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 and 4 Department of Mathematics, Georgetown University, Washington, DC 20057, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I184565670","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Children's Hospital of Philadelphia, Philadelphia, United States","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"],"apc_list":{"value":3992,"currency":"USD","value_usd":3992},"apc_paid":{"value":3992,"currency":"USD","value_usd":3992},"fwci":3.7993,"has_fulltext":true,"cited_by_count":85,"citation_normalized_percentile":{"value":0.93765191,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"36","issue":"21","first_page":"e138","last_page":"e138"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.98580002784729,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.98580002784729,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.006899999920278788,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.949999988079071},{"id":"https://openalex.org/keywords/mendelian-inheritance","display_name":"Mendelian inheritance","score":0.8220000267028809},{"id":"https://openalex.org/keywords/de-novo-cnvs","display_name":"de novo CNVs","score":0.8090000152587891},{"id":"https://openalex.org/keywords/homologous-chromosomes","display_name":"homologous chromosomes","score":0.7549999952316284},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.5860000252723694}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8455718755722046},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7894778847694397},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6682568788528442},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.5842023491859436},{"id":"https://openalex.org/C163691529","wikidata":"https://www.wikidata.org/wiki/Q7391886","display_name":"SNP genotyping","level":5,"score":0.5475366115570068},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.5455749034881592},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5104783773422241},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5093578100204468},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.36888426542282104},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2466977834701538},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.19938379526138306}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002877","descriptor_name":"Chromosomes, Human","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008390","descriptor_name":"Markov Chains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/nar/gkn641","doi":"https://doi.org/10.1093/nar/gkn641","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkn641","pdf_url":"https://academic.oup.com/nar/article-pdf/36/21/e138/16748790/gkn641.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2588508","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2588508","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Res","raw_type":"Text"},{"id":"pmid:18832372","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18832372","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic acids research","raw_type":"Evaluation Study"}],"best_oa_location":{"id":"doi:10.1093/nar/gkn641","doi":"https://doi.org/10.1093/nar/gkn641","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkn641","pdf_url":"https://academic.oup.com/nar/article-pdf/36/21/e138/16748790/gkn641.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.504800021648407,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G2290001615","display_name":"Center for Genomic and Phenomic Studies in Autism","funder_award_id":"U24MH081810","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G7298176736","display_name":"Developing Statistical Methods for Disease Gene Discovery","funder_award_id":"R01HG004517","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G91145486","display_name":null,"funder_award_id":"R01MH604687","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"}],"funders":[{"id":"https://openalex.org/F4320309099","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48"},{"id":"https://openalex.org/F4320309370","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10"},{"id":"https://openalex.org/F4320311440","display_name":"National Alliance for Research on Schizophrenia and Depression","ror":"https://ror.org/03a63f080"},{"id":"https://openalex.org/F4320314070","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2042004678.pdf","grobid_xml":"https://content.openalex.org/works/W2042004678.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W1967111730","https://openalex.org/W1971321176","https://openalex.org/W1973502710","https://openalex.org/W1991133427","https://openalex.org/W2002664697","https://openalex.org/W2010947655","https://openalex.org/W2014077667","https://openalex.org/W2022385074","https://openalex.org/W2031539362","https://openalex.org/W2080292758","https://openalex.org/W2084591827","https://openalex.org/W2085755265","https://openalex.org/W2086699924","https://openalex.org/W2094174059","https://openalex.org/W2116753165","https://openalex.org/W2117206387","https://openalex.org/W2119907069","https://openalex.org/W2124873881","https://openalex.org/W2141704631","https://openalex.org/W2146948473","https://openalex.org/W2149681218","https://openalex.org/W2155707112","https://openalex.org/W2160340638","https://openalex.org/W2163012157","https://openalex.org/W2164392039","https://openalex.org/W2740984310"],"related_works":["https://openalex.org/W2161076658","https://openalex.org/W7095562580","https://openalex.org/W2997154318","https://openalex.org/W1525791962","https://openalex.org/W2149681218","https://openalex.org/W7098791392","https://openalex.org/W7096728204","https://openalex.org/W2153992549","https://openalex.org/W6989139765","https://openalex.org/W2566496889"],"abstract_inverted_index":{"Copy":[0],"number":[1,39],"variations":[2],"(CNVs)":[3],"are":[4,29],"being":[5],"used":[6],"as":[7],"genetic":[8],"markers":[9],"or":[10,21],"functional":[11],"candidates":[12],"in":[13,40,128,135],"gene-mapping":[14],"studies.":[15],"However,":[16],"unlike":[17],"single":[18],"nucleotide":[19],"polymorphism":[20],"microsatellite":[22],"genotyping":[23],"techniques,":[24],"most":[25],"CNV":[26,58,136,179,185],"detection":[27,59],"methods":[28],"limited":[30],"to":[31,85,91,112,123,146,162],"detecting":[32],"total":[33],"copy":[34,38],"numbers,":[35],"rather":[36],"than":[37],"each":[41,129],"of":[42,76,108,120,130,149,184,195],"the":[43,74,83,118,131,154,193],"two":[44,132],"homologous":[45,133],"chromosomes.":[46],"To":[47],"address":[48],"this":[49],"issue,":[50],"we":[51,142],"developed":[52],"a":[53,69,147,189],"statistical":[54],"framework":[55],"for":[56,68,192],"intensity-based":[57],"platforms":[60],"using":[61,138,152],"family":[62,70],"data.":[63,140],"Our":[64],"algorithm":[65],"identifies":[66],"CNVs":[67],"simultaneously,":[71],"thus":[72],"avoiding":[73],"generation":[75],"calls":[77],"with":[78],"Mendelian":[79,121],"inconsistency":[80],"while":[81],"maintaining":[82],"ability":[84],"detect":[86],"de":[87,170],"novo":[88,171],"CNVs.":[89,172,201],"Applications":[90],"simulated":[92],"data":[93,96],"and":[94,106,157,169,187,197],"real":[95,139],"indicate":[97],"that":[98],"our":[99,144,175],"method":[100,145,176],"significantly":[101],"improves":[102],"both":[103,153,167],"call":[104],"rates":[105],"accuracy":[107],"boundary":[109],"inference,":[110],"compared":[111],"existing":[113],"approaches.":[114],"We":[115],"further":[116],"illustrate":[117],"use":[119],"inheritance":[122],"infer":[124],"SNP":[125],"allele":[126],"compositions":[127],"chromosomes":[134],"regions":[137],"Finally,":[141],"applied":[143],"set":[148],"families":[150],"genotyped":[151],"Illumina":[155],"HumanHap550":[156],"Affymetrix":[158],"genome-wide":[159],"5.0":[160],"arrays":[161],"demonstrate":[163],"its":[164],"performance":[165],"on":[166],"inherited":[168],"In":[173],"conclusion,":[174],"produces":[177],"accurate":[178],"calls,":[180],"gives":[181],"probabilistic":[182],"estimates":[183],"transmission":[186],"builds":[188],"solid":[190],"foundation":[191],"development":[194],"linkage":[196],"association":[198],"tests":[199],"utilizing":[200]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":11}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
