{"id":"https://openalex.org/W2496300846","doi":"https://doi.org/10.1093/bioinformatics/btw500","title":"A novel copy number variants kernel association test with application to autism spectrum disorders studies","display_name":"A novel copy number variants kernel association test with application to autism spectrum disorders studies","publication_year":2016,"publication_date":"2016-08-06","ids":{"openalex":"https://openalex.org/W2496300846","doi":"https://doi.org/10.1093/bioinformatics/btw500","mag":"2496300846","pmid":"https://pubmed.ncbi.nlm.nih.gov/27497442"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btw500","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw500","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/23/3603/16920359/btw500.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/32/23/3603/16920359/btw500.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5013014902","display_name":"Xiang Zhan","orcid":"https://orcid.org/0000-0001-9650-143X"},"institutions":[{"id":"https://openalex.org/I4210089486","display_name":"Fred Hutch Cancer Center","ror":"https://ror.org/007ps6h72","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210089486"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Xiang Zhan","raw_affiliation_strings":["1Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA","institution_ids":["https://openalex.org/I4210089486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052791919","display_name":"Santhosh Girirajan","orcid":"https://orcid.org/0000-0003-0598-4945"},"institutions":[{"id":"https://openalex.org/I130769515","display_name":"Pennsylvania State University","ror":"https://ror.org/04p491231","country_code":"US","type":"education","lineage":["https://openalex.org/I130769515"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Santhosh Girirajan","raw_affiliation_strings":["2Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA","3Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA","institution_ids":["https://openalex.org/I130769515"]},{"raw_affiliation_string":"3Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA and","institution_ids":["https://openalex.org/I130769515"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022433604","display_name":"Ni Zhao","orcid":"https://orcid.org/0000-0002-7762-3949"},"institutions":[{"id":"https://openalex.org/I4210089486","display_name":"Fred Hutch Cancer Center","ror":"https://ror.org/007ps6h72","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210089486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ni Zhao","raw_affiliation_strings":["1Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA","institution_ids":["https://openalex.org/I4210089486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000129649","display_name":"Michael C. Wu","orcid":"https://orcid.org/0000-0002-3357-6570"},"institutions":[{"id":"https://openalex.org/I4210089486","display_name":"Fred Hutch Cancer Center","ror":"https://ror.org/007ps6h72","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210089486"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael C. Wu","raw_affiliation_strings":["1Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA","institution_ids":["https://openalex.org/I4210089486"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100625252","display_name":"Debashis Ghosh","orcid":"https://orcid.org/0000-0001-6618-1316"},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz Medical Campus","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]},{"id":"https://openalex.org/I921990950","display_name":"University of Colorado Denver","ror":"https://ror.org/02hh7en24","country_code":"US","type":"education","lineage":["https://openalex.org/I921990950"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Debashis Ghosh","raw_affiliation_strings":["4Department of Biostatistics and Informatics, University of Colorado, Aurora, CO 80045, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4Department of Biostatistics and Informatics, University of Colorado, Aurora, CO 80045, USA","institution_ids":["https://openalex.org/I51713134","https://openalex.org/I921990950"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5013014902","https://openalex.org/A5100625252"],"corresponding_institution_ids":["https://openalex.org/I4210089486","https://openalex.org/I51713134","https://openalex.org/I921990950"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":2.6664,"has_fulltext":true,"cited_by_count":20,"citation_normalized_percentile":{"value":0.90319781,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":98},"biblio":{"volume":"32","issue":"23","first_page":"3603","last_page":"3610"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.920799970626831,"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":0.920799970626831,"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":0.021400000900030136,"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.019300000742077827,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/autism","display_name":"Autism","score":0.8126450777053833},{"id":"https://openalex.org/keywords/association","display_name":"Association (psychology)","score":0.6000097990036011},{"id":"https://openalex.org/keywords/test","display_name":"Test (biology)","score":0.5101971626281738},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.5059918761253357},{"id":"https://openalex.org/keywords/kernel","display_name":"Kernel (algebra)","score":0.4770438075065613},{"id":"https://openalex.org/keywords/spectrum","display_name":"Spectrum (functional analysis)","score":0.4747878909111023},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.44880276918411255},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"Autism spectrum disorder","score":0.43269044160842896},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.3836875557899475},{"id":"https://openalex.org/keywords/psychology","display_name":"Psychology","score":0.3447687029838562},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.33818256855010986},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.30964964628219604},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.22301512956619263},{"id":"https://openalex.org/keywords/developmental-psychology","display_name":"Developmental psychology","score":0.16691464185714722},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.09132581949234009},{"id":"https://openalex.org/keywords/combinatorics","display_name":"Combinatorics","score":0.08449113368988037},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.06866833567619324}],"concepts":[{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.8126450777053833},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.6000097990036011},{"id":"https://openalex.org/C2777267654","wikidata":"https://www.wikidata.org/wiki/Q3519023","display_name":"Test (biology)","level":2,"score":0.5101971626281738},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5059918761253357},{"id":"https://openalex.org/C74193536","wikidata":"https://www.wikidata.org/wiki/Q574844","display_name":"Kernel (algebra)","level":2,"score":0.4770438075065613},{"id":"https://openalex.org/C156778621","wikidata":"https://www.wikidata.org/wiki/Q1365748","display_name":"Spectrum (functional analysis)","level":2,"score":0.4747878909111023},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44880276918411255},{"id":"https://openalex.org/C2778538070","wikidata":"https://www.wikidata.org/wiki/Q1436063","display_name":"Autism spectrum disorder","level":3,"score":0.43269044160842896},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3836875557899475},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3447687029838562},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.33818256855010986},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30964964628219604},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.22301512956619263},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.16691464185714722},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09132581949234009},{"id":"https://openalex.org/C114614502","wikidata":"https://www.wikidata.org/wiki/Q76592","display_name":"Combinatorics","level":1,"score":0.08449113368988037},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.06866833567619324},{"id":"https://openalex.org/C542102704","wikidata":"https://www.wikidata.org/wiki/Q183257","display_name":"Psychotherapist","level":1,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C62520636","wikidata":"https://www.wikidata.org/wiki/Q944","display_name":"Quantum mechanics","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"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":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btw500","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw500","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/23/3603/16920359/btw500.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:27497442","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27497442","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:5181531","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5181531","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btw500","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw500","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/23/3603/16920359/btw500.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1245844946","display_name":null,"funder_award_id":"U10CA180819","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G1903169257","display_name":null,"funder_award_id":"U10 CA180819","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G2040717890","display_name":null,"funder_award_id":"S10 OD020069","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2709593909","display_name":null,"funder_award_id":"U10CA180819","funder_id":"https://openalex.org/F4320314494","funder_display_name":"Hope Foundation"},{"id":"https://openalex.org/G3355867798","display_name":null,"funder_award_id":"R01 GM117946","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G344627599","display_name":null,"funder_award_id":"R01HG007508","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320314494","display_name":"Hope Foundation","ror":"https://ror.org/05wf1w785"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2496300846.pdf","grobid_xml":"https://content.openalex.org/works/W2496300846.grobid-xml"},"referenced_works_count":30,"referenced_works":["https://openalex.org/W1480269362","https://openalex.org/W1840443016","https://openalex.org/W1966938977","https://openalex.org/W1971321176","https://openalex.org/W2003438077","https://openalex.org/W2012203722","https://openalex.org/W2022385074","https://openalex.org/W2033702086","https://openalex.org/W2035473823","https://openalex.org/W2041467022","https://openalex.org/W2041953582","https://openalex.org/W2063655230","https://openalex.org/W2073062083","https://openalex.org/W2078739747","https://openalex.org/W2100185570","https://openalex.org/W2108299701","https://openalex.org/W2119907069","https://openalex.org/W2124271930","https://openalex.org/W2124873881","https://openalex.org/W2136582936","https://openalex.org/W2145709699","https://openalex.org/W2148095347","https://openalex.org/W2150281440","https://openalex.org/W2162587106","https://openalex.org/W2163177727","https://openalex.org/W2163953557","https://openalex.org/W2192043071","https://openalex.org/W2257943856","https://openalex.org/W3148106702","https://openalex.org/W4237638794"],"related_works":["https://openalex.org/W4280602684","https://openalex.org/W4310092953","https://openalex.org/W2227393071","https://openalex.org/W2166141227","https://openalex.org/W4378085486","https://openalex.org/W1995350144","https://openalex.org/W4366602711","https://openalex.org/W620566831","https://openalex.org/W2945184670","https://openalex.org/W3121111470"],"abstract_inverted_index":{"MOTIVATION:":[0],"Copy":[1],"number":[2],"variants":[3,35],"(CNVs)":[4],"have":[5,28],"been":[6],"implicated":[7],"in":[8,24,45,51,101,173,183],"a":[9,39,94,129,146,177,184,220],"variety":[10],"of":[11,32,49,54,61,65,89,124,237],"neurodevelopmental":[12],"disorders,":[13,17,231],"including":[14,36],"autism":[15,229],"spectrum":[16,230],"intellectual":[18],"disability":[19],"and":[20,74,85,139,160,195,228],"schizophrenia.":[21],"Recent":[22],"advances":[23],"high-throughput":[25],"genomic":[26],"technologies":[27],"enabled":[29],"rapid":[30],"discovery":[31],"many":[33,55],"genetic":[34],"CNVs.":[37,90],"As":[38],"result,":[40],"there":[41],"is":[42,163,199,253],"increasing":[43],"interest":[44],"studying":[46],"the":[47,52,59,82,106,121,134,142,151,167,171,174,190,211,224,234,238,249],"role":[48],"CNVs":[50,73,109],"etiology":[53],"complex":[56],"diseases.":[57],"Despite":[58],"availability":[60],"an":[62],"unprecedented":[63],"wealth":[64],"CNV":[66,96,114,227],"data,":[67],"methods":[68],"for":[69,180],"testing":[70],"association":[71,98,157,225],"between":[72,136,153,158,226],"disease-related":[75,161],"traits":[76,162],"are":[77,110,264],"still":[78],"under-developed":[79],"due":[80],"to":[81,145,209,219,247],"low":[83,107],"prevalence":[84],"complicated":[86],"multi-scale":[87,122],"features":[88,123],"RESULTS:":[91],"We":[92,188,215],"propose":[93],"novel":[95],"kernel":[97,131,144,148],"test":[99,179],"(CKAT)":[100],"this":[102],"paper.":[103],"To":[104],"address":[105],"prevalence,":[108],"first":[111,127],"grouped":[112],"into":[113,119],"regions":[115],"(CNVR).":[116],"Then,":[117],"taking":[118],"account":[120],"CNVs,":[125,138],"we":[126],"design":[128],"single-CNV":[130,143],"which":[132,149,232],"summarizes":[133,150],"similarity":[135,152,169,172],"two":[137,154],"next":[140],"aggregate":[141],"CNVR":[147,159],"CNVRs.":[155],"Finally,":[156],"assessed":[164],"by":[165],"comparing":[166],"kernel-based":[168],"with":[170],"trait":[175],"using":[176,193],"score":[178],"variance":[181],"components":[182],"random":[185],"effect":[186],"model.":[187],"illustrate":[189],"proposed":[191,239,250],"CKAT":[192,198,218,251],"simulations":[194],"show":[196],"that":[197],"more":[200],"powerful":[201],"than":[202],"existing":[203],"methods,":[204],"while":[205],"always":[206],"being":[207],"able":[208],"control":[210],"type":[212],"I":[213],"error.":[214],"also":[216],"apply":[217],"real":[221],"dataset":[222],"examining":[223],"demonstrates":[233],"potential":[235],"usefulness":[236],"method.":[240],"AVAILABILITY":[241],"AND":[242],"IMPLEMENTATION:":[243],"A":[244],"R":[245],"package":[246],"implement":[248],"method":[252],"available":[254,265],"at":[255,266],"http://works.bepress.com/debashis_ghosh/":[256],"CONTACTS:":[257],"xzhan@fhcrc.org":[258],"or":[259],"debashis.ghosh@ucdenver.eduSupplementary":[260],"information:":[261],"Supplementary":[262],"data":[263],"Bioinformatics":[267],"online.":[268]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2}],"updated_date":"2026-06-29T08:53:18.405633","created_date":"2025-10-10T00:00:00"}
