{"id":"https://openalex.org/W3021029003","doi":"https://doi.org/10.1371/journal.pcbi.1007797","title":"Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis","display_name":"Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis","publication_year":2020,"publication_date":"2020-05-04","ids":{"openalex":"https://openalex.org/W3021029003","doi":"https://doi.org/10.1371/journal.pcbi.1007797","mag":"3021029003","pmid":"https://pubmed.ncbi.nlm.nih.gov/32365089"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1007797","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007797","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007797&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007797&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061585806","display_name":"Amanda Brucker","orcid":"https://orcid.org/0000-0002-9966-3001"},"institutions":[{"id":"https://openalex.org/I137902535","display_name":"North Carolina State University","ror":"https://ror.org/04tj63d06","country_code":"US","type":"education","lineage":["https://openalex.org/I137902535"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Amanda Brucker","raw_affiliation_strings":["Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America","institution_ids":["https://openalex.org/I137902535"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110686998","display_name":"Wenbin Lu","orcid":null},"institutions":[{"id":"https://openalex.org/I137902535","display_name":"North Carolina State University","ror":"https://ror.org/04tj63d06","country_code":"US","type":"education","lineage":["https://openalex.org/I137902535"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Wenbin Lu","raw_affiliation_strings":["Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America","institution_ids":["https://openalex.org/I137902535"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102722498","display_name":"Rachel Marceau West","orcid":"https://orcid.org/0000-0003-3131-1058"},"institutions":[{"id":"https://openalex.org/I137902535","display_name":"North Carolina State University","ror":"https://ror.org/04tj63d06","country_code":"US","type":"education","lineage":["https://openalex.org/I137902535"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Rachel Marceau West","raw_affiliation_strings":["Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America","institution_ids":["https://openalex.org/I137902535"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004627749","display_name":"Qi-You Yu","orcid":null},"institutions":[{"id":"https://openalex.org/I16733864","display_name":"National Taiwan University","ror":"https://ror.org/05bqach95","country_code":"TW","type":"education","lineage":["https://openalex.org/I16733864"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Qi-You Yu","raw_affiliation_strings":["Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan"],"affiliations":[{"raw_affiliation_string":"Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040081412","display_name":"Chuhsing Kate Hsiao","orcid":"https://orcid.org/0000-0003-4905-8484"},"institutions":[{"id":"https://openalex.org/I16733864","display_name":"National Taiwan University","ror":"https://ror.org/05bqach95","country_code":"TW","type":"education","lineage":["https://openalex.org/I16733864"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Chuhsing Kate Hsiao","raw_affiliation_strings":["Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan"],"affiliations":[{"raw_affiliation_string":"Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109047519","display_name":"Tzu-Hung Hsiao","orcid":null},"institutions":[{"id":"https://openalex.org/I4210091773","display_name":"Taichung Veterans General Hospital","ror":"https://ror.org/00e87hq62","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210091773"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Tzu-Hung Hsiao","raw_affiliation_strings":["Department of Medical Research, Taichung Veterans General Hospital, Taiwan"],"affiliations":[{"raw_affiliation_string":"Department of Medical Research, Taichung Veterans General Hospital, Taiwan","institution_ids":["https://openalex.org/I4210091773"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103177983","display_name":"Ching\u2010Heng Lin","orcid":"https://orcid.org/0000-0002-2450-6108"},"institutions":[{"id":"https://openalex.org/I4210091773","display_name":"Taichung Veterans General Hospital","ror":"https://ror.org/00e87hq62","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210091773"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Ching-Heng Lin","raw_affiliation_strings":["Department of Medical Research, Taichung Veterans General Hospital, Taiwan"],"affiliations":[{"raw_affiliation_string":"Department of Medical Research, Taichung Veterans General Hospital, Taiwan","institution_ids":["https://openalex.org/I4210091773"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022810412","display_name":"Patrik K. E. Magnusson","orcid":"https://orcid.org/0000-0002-7315-7899"},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":true,"raw_author_name":"Patrik K. E. Magnusson","raw_affiliation_strings":["Department of Medical Epidemiology and Biostatistics, Karolinska Institutet SE-171 77 Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Department of Medical Epidemiology and Biostatistics, Karolinska Institutet SE-171 77 Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061802355","display_name":"Patrick F. Sullivan","orcid":"https://orcid.org/0000-0002-6619-873X"},"institutions":[{"id":"https://openalex.org/I114027177","display_name":"University of North Carolina at Chapel Hill","ror":"https://ror.org/0130frc33","country_code":"US","type":"education","lineage":["https://openalex.org/I114027177"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE","US"],"is_corresponding":true,"raw_author_name":"Patrick F. Sullivan","raw_affiliation_strings":["Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America","Department of Medical Epidemiology and Biostatistics, Karolinska Institutet SE-171 77 Stockholm, Sweden"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America","institution_ids":["https://openalex.org/I114027177"]},{"raw_affiliation_string":"Department of Medical Epidemiology and Biostatistics, Karolinska Institutet SE-171 77 Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020779347","display_name":"Jin Szatkiewicz","orcid":"https://orcid.org/0000-0002-4898-7401"},"institutions":[{"id":"https://openalex.org/I114027177","display_name":"University of North Carolina at Chapel Hill","ror":"https://ror.org/0130frc33","country_code":"US","type":"education","lineage":["https://openalex.org/I114027177"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Jin P. Szatkiewicz","raw_affiliation_strings":["Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America","institution_ids":["https://openalex.org/I114027177"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025739002","display_name":"Tzu\u2010Pin Lu","orcid":"https://orcid.org/0000-0003-3697-0386"},"institutions":[{"id":"https://openalex.org/I16733864","display_name":"National Taiwan University","ror":"https://ror.org/05bqach95","country_code":"TW","type":"education","lineage":["https://openalex.org/I16733864"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Tzu-Pin Lu","raw_affiliation_strings":["Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan"],"affiliations":[{"raw_affiliation_string":"Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016146373","display_name":"Jung\u2010Ying Tzeng","orcid":"https://orcid.org/0000-0002-5505-1775"},"institutions":[{"id":"https://openalex.org/I137902535","display_name":"North Carolina State University","ror":"https://ror.org/04tj63d06","country_code":"US","type":"education","lineage":["https://openalex.org/I137902535"]},{"id":"https://openalex.org/I16733864","display_name":"National Taiwan University","ror":"https://ror.org/05bqach95","country_code":"TW","type":"education","lineage":["https://openalex.org/I16733864"]},{"id":"https://openalex.org/I91807558","display_name":"National Cheng Kung University","ror":"https://ror.org/01b8kcc49","country_code":"TW","type":"education","lineage":["https://openalex.org/I91807558"]}],"countries":["TW","US"],"is_corresponding":true,"raw_author_name":"Jung-Ying Tzeng","raw_affiliation_strings":["Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, United States of America","Department of Statistics, National Cheng-Kung University, Tainan, Taiwan","Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America","Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan"],"affiliations":[{"raw_affiliation_string":"Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, United States of America","institution_ids":["https://openalex.org/I137902535"]},{"raw_affiliation_string":"Department of Statistics, National Cheng-Kung University, Tainan, Taiwan","institution_ids":["https://openalex.org/I91807558"]},{"raw_affiliation_string":"Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America","institution_ids":["https://openalex.org/I137902535"]},{"raw_affiliation_string":"Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5004627749","https://openalex.org/A5016146373","https://openalex.org/A5020779347","https://openalex.org/A5022810412","https://openalex.org/A5025739002","https://openalex.org/A5040081412","https://openalex.org/A5061585806","https://openalex.org/A5061802355","https://openalex.org/A5102722498","https://openalex.org/A5103177983","https://openalex.org/A5109047519","https://openalex.org/A5110686998"],"corresponding_institution_ids":["https://openalex.org/I114027177","https://openalex.org/I137902535","https://openalex.org/I16733864","https://openalex.org/I28166907","https://openalex.org/I4210091773","https://openalex.org/I91807558"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":1.0809,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":{"value":0.78734938,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":96},"biblio":{"volume":"16","issue":"5","first_page":"e1007797","last_page":"e1007797"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":1.0,"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":1.0,"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/T10434","display_name":"Chromosomal and Genetic Variations","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/1110","display_name":"Plant Science"},"field":{"id":"https://openalex.org/fields/11","display_name":"Agricultural and Biological Sciences"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9929999709129333,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.8437860012054443},{"id":"https://openalex.org/keywords/locus","display_name":"Locus (genetics)","score":0.7366371154785156},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5330713391304016},{"id":"https://openalex.org/keywords/comparative-genomic-hybridization","display_name":"Comparative genomic hybridization","score":0.5261644721031189},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.461760014295578},{"id":"https://openalex.org/keywords/copy-number-analysis","display_name":"Copy number analysis","score":0.45628342032432556},{"id":"https://openalex.org/keywords/gene-dosage","display_name":"Gene dosage","score":0.4309556484222412},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4233018159866333},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.3463258147239685},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.31734734773635864},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1525660753250122}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.8437860012054443},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7366371154785156},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5330713391304016},{"id":"https://openalex.org/C124942203","wikidata":"https://www.wikidata.org/wiki/Q656638","display_name":"Comparative genomic hybridization","level":4,"score":0.5261644721031189},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.461760014295578},{"id":"https://openalex.org/C166608930","wikidata":"https://www.wikidata.org/wiki/Q5169175","display_name":"Copy number analysis","level":5,"score":0.45628342032432556},{"id":"https://openalex.org/C55548728","wikidata":"https://www.wikidata.org/wiki/Q1465102","display_name":"Gene dosage","level":4,"score":0.4309556484222412},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4233018159866333},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3463258147239685},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.31734734773635864},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1525660753250122},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","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":"D006801","descriptor_name":"Humans","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":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019540","descriptor_name":"Area Under Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019540","descriptor_name":"Area Under Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019540","descriptor_name":"Area Under Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D062206","descriptor_name":"Spatial Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D062206","descriptor_name":"Spatial Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D062206","descriptor_name":"Spatial Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1371/journal.pcbi.1007797","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007797","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007797&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:32365089","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32365089","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,"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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:RePEc:plo:pcbi00:1007797","is_oa":false,"landing_page_url":"https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1007797","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:88a8bc6a56c04085b78960c936494bce","is_oa":true,"landing_page_url":"https://doaj.org/article/88a8bc6a56c04085b78960c936494bce","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 16, Iss 5, p e1007797 (2020)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7224564","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7224564","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"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","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1007797","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1007797","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1007797&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G3133383711","display_name":null,"funder_award_id":"T32GM081057","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3650165857","display_name":null,"funder_award_id":"MOST-106-2314-B-002-134-MY2","funder_id":"https://openalex.org/F4320322795","funder_display_name":"Ministry of Science and Technology, Taiwan"},{"id":"https://openalex.org/G5057007109","display_name":null,"funder_award_id":"CA142538-01","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G690979240","display_name":null,"funder_award_id":"P01CA142538-01","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7791395728","display_name":null,"funder_award_id":"CA142538","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8651216667","display_name":null,"funder_award_id":"P01CA142538","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8958024908","display_name":null,"funder_award_id":"MOST-104-2314-B-002-107-MY2","funder_id":"https://openalex.org/F4320322795","funder_display_name":"Ministry of Science and Technology, Taiwan"},{"id":"https://openalex.org/G99835574","display_name":null,"funder_award_id":"GM081057","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320322795","display_name":"Ministry of Science and Technology, Taiwan","ror":"https://ror.org/02kv4zf79"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3021029003.pdf","grobid_xml":"https://content.openalex.org/works/W3021029003.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W1840443016","https://openalex.org/W1973025982","https://openalex.org/W1976555450","https://openalex.org/W1976635703","https://openalex.org/W1994000850","https://openalex.org/W1997162169","https://openalex.org/W2033642373","https://openalex.org/W2037664109","https://openalex.org/W2052326665","https://openalex.org/W2065506875","https://openalex.org/W2084708009","https://openalex.org/W2098478845","https://openalex.org/W2105611615","https://openalex.org/W2108299701","https://openalex.org/W2110094217","https://openalex.org/W2110256992","https://openalex.org/W2111064437","https://openalex.org/W2114327599","https://openalex.org/W2115807273","https://openalex.org/W2117787632","https://openalex.org/W2121044470","https://openalex.org/W2124277850","https://openalex.org/W2136582936","https://openalex.org/W2140939470","https://openalex.org/W2149681218","https://openalex.org/W2155602190","https://openalex.org/W2163975515","https://openalex.org/W2192043071","https://openalex.org/W2300795841","https://openalex.org/W2496300846","https://openalex.org/W2757821575"],"related_works":["https://openalex.org/W1963487910","https://openalex.org/W2010401695","https://openalex.org/W2413147539","https://openalex.org/W2019912140","https://openalex.org/W2130793549","https://openalex.org/W4231651198","https://openalex.org/W2154361640","https://openalex.org/W2092343534","https://openalex.org/W2081326723","https://openalex.org/W2030481069"],"abstract_inverted_index":{"Copy":[0],"number":[1,132,153,168],"variants":[2],"(CNVs)":[3],"are":[4,101],"the":[5,13,57,115,156,163,173,180,184,190,198,207,221,263,268],"gain":[6],"or":[7,243],"loss":[8],"of":[9,27,73,143,166,176,200,210,237],"DNA":[10],"segments":[11],"in":[12,18,29,55,230,262],"genome":[14],"that":[15,90,137,253],"can":[16,93,108],"vary":[17],"dosage":[19,202],"and":[20,32,70,104,145,179,203,213,216,267],"length.":[21],"CNVs":[22],"comprise":[23],"a":[24,48,78,82,124,141,235],"large":[25],"proportion":[26],"variation":[28],"human":[30],"genomes":[31],"impact":[33],"health":[34],"conditions.":[35],"To":[36,76],"detect":[37,259],"rare":[38],"CNV":[39,59,68,83,99,174,192,201,226,260],"associations,":[40],"kernel-based":[41,126],"methods":[42],"have":[43],"been":[44],"shown":[45],"to":[46,52,63,86,110,171,188,223,258],"be":[47,87,94],"powerful":[49],"tool":[50],"due":[51],"their":[53,61,71],"flexibility":[54],"modeling":[56],"aggregate":[58],"effects,":[60],"ability":[62],"capture":[64],"effects":[65,92,199,261],"from":[66,140],"different":[67,105,111],"features,":[69],"accommodation":[72],"effect":[74,117],"heterogeneity.":[75],"perform":[77],"kernel":[79,232],"association":[80,135],"test,":[81],"locus":[84,106,144],"needs":[85],"defined":[88,103],"so":[89],"locus-specific":[91],"retained":[95],"during":[96],"aggregation.":[97],"However,":[98],"loci":[100,227],"arbitrarily":[102],"definitions":[107],"lead":[109],"performance":[112],"depending":[113],"on":[114,162],"underlying":[116],"patterns.":[118],"In":[119,234],"this":[120],"work,":[121],"we":[122],"develop":[123],"new":[125],"test":[127],"called":[128],"CONCUR":[129,159,240,254],"(i.e.,":[130],"copy":[131,152,211],"profile":[133,169,175],"curve-based":[134],"test)":[136],"is":[138,160,255],"free":[139],"definition":[142],"evaluates":[146],"CNV-phenotype":[147],"associations":[148],"by":[149],"comparing":[150],"individuals'":[151],"profiles":[154],"across":[155],"genomic":[157],"regions.":[158],"built":[161],"proposed":[164,195],"concepts":[165],"\"copy":[167],"curves\"":[170],"describe":[172],"an":[177],"individual,":[178],"\"common":[181],"area":[182],"under":[183],"curve":[185],"(cAUC)":[186],"kernel\"":[187],"model":[189],"multi-feature":[191],"effects.":[193],"The":[194],"method":[196],"captures":[197],"length,":[204],"accounts":[205],"for":[206],"numerical":[208],"nature":[209],"numbers,":[212],"accommodates":[214],"between-":[215],"within-locus":[217],"etiological":[218],"heterogeneity":[219],"without":[220],"need":[222],"define":[224],"artificial":[225],"as":[228],"required":[229],"current":[231],"methods.":[233],"variety":[236],"simulation":[238],"settings,":[239],"shows":[241],"comparable":[242],"improved":[244],"power":[245],"over":[246],"existing":[247],"approaches.":[248],"Real":[249],"data":[250],"analyses":[251],"suggest":[252],"well":[256],"powered":[257],"Swedish":[264],"Schizophrenia":[265],"Study":[266],"Taiwan":[269],"Biobank.":[270]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}
