{"id":"https://openalex.org/W2018535772","doi":"https://doi.org/10.1186/1753-6561-8-s1-s48","title":"Comparison of several sequence-based association methods in pedigrees","display_name":"Comparison of several sequence-based association methods in pedigrees","publication_year":2014,"publication_date":"2014-06-01","ids":{"openalex":"https://openalex.org/W2018535772","doi":"https://doi.org/10.1186/1753-6561-8-s1-s48","mag":"2018535772","pmid":"https://pubmed.ncbi.nlm.nih.gov/25519329","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4143807"},"language":"en","primary_location":{"id":"doi:10.1186/1753-6561-8-s1-s48","doi":"https://doi.org/10.1186/1753-6561-8-s1-s48","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1753-6561-8-s1-s48","pdf_url":"https://bmcproc.biomedcentral.com/counter/pdf/10.1186/1753-6561-8-S1-S48","source":{"id":"https://openalex.org/S49206733","display_name":"BMC Proceedings","issn_l":"1753-6561","issn":["1753-6561"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","norway-1","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Proceedings","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcproc.biomedcentral.com/counter/pdf/10.1186/1753-6561-8-S1-S48","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"George Mathew","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119942284","display_name":"Missouri State University","ror":"https://ror.org/01d2sez20","country_code":"US","type":"education","lineage":["https://openalex.org/I119942284"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"George Mathew","raw_affiliation_strings":["Department of Mathematics, Missouri State University, 901 South National Avenue, Springfield, Missouri 65897, USA","Department of Mathematics, Missouri State Univ., Springfield, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mathematics, Missouri State University, 901 South National Avenue, Springfield, Missouri 65897, USA","institution_ids":["https://openalex.org/I119942284"]},{"raw_affiliation_string":"Department of Mathematics, Missouri State Univ., Springfield, USA","institution_ids":["https://openalex.org/I119942284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103273958","display_name":"Varghese T. George","orcid":"https://orcid.org/0000-0003-3265-3527","observed_orcids":["https://orcid.org/0000-0003-3265-3527"]},"institutions":[{"id":"https://openalex.org/I25041050","display_name":"Augusta University","ror":"https://ror.org/012mef835","country_code":"US","type":"education","lineage":["https://openalex.org/I25041050"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Varghese George","raw_affiliation_strings":["Department of Biostatistics & Epidemiology, Georgia Regents University, 1469 Laney Walker Boulevard, Augusta, Georgia 30912-4900, USA","Department of Biostatistics & Epidemiology, Georgia Regents University, Augusta, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics & Epidemiology, Georgia Regents University, 1469 Laney Walker Boulevard, Augusta, Georgia 30912-4900, USA","institution_ids":["https://openalex.org/I25041050"]},{"raw_affiliation_string":"Department of Biostatistics & Epidemiology, Georgia Regents University, Augusta, USA","institution_ids":["https://openalex.org/I25041050"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100662622","display_name":"Hongyan Xu","orcid":"https://orcid.org/0000-0001-7432-9018","observed_orcids":["https://orcid.org/0000-0001-7432-9018","https://orcid.org/0009-0008-7918-5170"]},"institutions":[{"id":"https://openalex.org/I25041050","display_name":"Augusta University","ror":"https://ror.org/012mef835","country_code":"US","type":"education","lineage":["https://openalex.org/I25041050"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hongyan Xu","raw_affiliation_strings":["Department of Biostatistics & Epidemiology, Georgia Regents University, 1469 Laney Walker Boulevard, Augusta, Georgia 30912-4900, USA","Department of Biostatistics & Epidemiology, Georgia Regents University, Augusta, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics & Epidemiology, Georgia Regents University, 1469 Laney Walker Boulevard, Augusta, Georgia 30912-4900, USA","institution_ids":["https://openalex.org/I25041050"]},{"raw_affiliation_string":"Department of Biostatistics & Epidemiology, Georgia Regents University, Augusta, USA","institution_ids":["https://openalex.org/I25041050"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I119942284"],"apc_list":{"value":2290,"currency":"USD","value_usd":2290},"apc_paid":{"value":2290,"currency":"USD","value_usd":2290},"fwci":0.4367,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.64287254,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"8","issue":"S1","first_page":"S48","last_page":"S48"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9907000064849854,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9907000064849854,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0038999998942017555,"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/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.0013000000035390258,"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/pedigree","display_name":"pedigree","score":0.8040000200271606},{"id":"https://openalex.org/keywords/rare-variant-association","display_name":"rare variant association","score":0.8569999933242798},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.7730000019073486},{"id":"https://openalex.org/keywords/functional-principal-component-analysis","display_name":"functional principal component analysis","score":0.9169999957084656},{"id":"https://openalex.org/keywords/complex-diseases","display_name":"complex diseases","score":0.6729999780654907},{"id":"https://openalex.org/keywords/genetic-analysis-workshop-18","display_name":"Genetic Analysis Workshop 18","score":0.8119999766349792},{"id":"https://openalex.org/keywords/common-genetic-variants","display_name":"common genetic variants","score":0.4169999957084656}],"concepts":[{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.8767675161361694},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5750695466995239},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.539753258228302},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5388426780700684},{"id":"https://openalex.org/C27438332","wikidata":"https://www.wikidata.org/wiki/Q2873","display_name":"Principal component analysis","level":2,"score":0.5385490655899048},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5185314416885376},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.4777228534221649},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.46203187108039856},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.4497426152229309},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.42230361700057983},{"id":"https://openalex.org/C58489278","wikidata":"https://www.wikidata.org/wiki/Q1172284","display_name":"Data set","level":2,"score":0.42010489106178284},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4185660183429718},{"id":"https://openalex.org/C161584116","wikidata":"https://www.wikidata.org/wiki/Q1952580","display_name":"Multivariate statistics","level":2,"score":0.41405361890792847},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.31656837463378906},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.31069889664649963},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26761746406555176},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.26134347915649414},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.22296273708343506},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.1235010027885437},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11816471815109253},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07547110319137573},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1186/1753-6561-8-s1-s48","doi":"https://doi.org/10.1186/1753-6561-8-s1-s48","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1753-6561-8-s1-s48","pdf_url":"https://bmcproc.biomedcentral.com/counter/pdf/10.1186/1753-6561-8-S1-S48","source":{"id":"https://openalex.org/S49206733","display_name":"BMC Proceedings","issn_l":"1753-6561","issn":["1753-6561"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","norway-1","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Proceedings","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4143807","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4143807","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Proc","raw_type":"Text"},{"id":"pmid:25519329","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25519329","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":"BMC proceedings","raw_type":"Journal Article"},{"id":"pmh:oai:bearworks.missouristate.edu:articles-cnas-1204","doi":null,"is_oa":true,"landing_page_url":"https://bearworks.missouristate.edu/articles-cnas/205","pdf_url":null,"source":{"id":"https://openalex.org/S4377196450","display_name":"BearWorks (Missouri State University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I119942284","host_organization_name":"Missouri State University","host_organization_lineage":["https://openalex.org/I119942284"],"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":"College of Natural and Applied Sciences","raw_type":"text"},{"id":"pmh:oai:bearworks.missouristate.edu:articles-cnas-1478","doi":null,"is_oa":false,"landing_page_url":"https://bearworks.missouristate.edu/articles-cnas/479","pdf_url":null,"source":{"id":"https://openalex.org/S4377196450","display_name":"BearWorks (Missouri State University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I119942284","host_organization_name":"Missouri State University","host_organization_lineage":["https://openalex.org/I119942284"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Articles by College of Natural and Applied Sciences Faculty","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1186/1753-6561-8-s1-s48","doi":"https://doi.org/10.1186/1753-6561-8-s1-s48","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1753-6561-8-s1-s48","pdf_url":"https://bmcproc.biomedcentral.com/counter/pdf/10.1186/1753-6561-8-S1-S48","source":{"id":"https://openalex.org/S49206733","display_name":"BMC Proceedings","issn_l":"1753-6561","issn":["1753-6561"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","norway-1","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Proceedings","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G1025860641","display_name":"Multiethnic Study of Type 2 Diabetes Genes","funder_award_id":"U01DK085526","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G1134460242","display_name":"Identifying T2D Variants by DNA Sequencing in Multiethnic Samples","funder_award_id":"U01DK085584","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G2053005029","display_name":null,"funder_award_id":"T2D-GENES Consortium","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2161224030","display_name":"Identification and Replication of Type 2 Diabetes Genes in Mexican Americans","funder_award_id":"U01DK085501","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G2979254111","display_name":"Discovery of Functional Variants in Type 2 Diabetes Genes in Mexican Americans","funder_award_id":"U01DK085524","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G4153561205","display_name":"Identifying variants causal for Type 2 Diabetes in Major human populations","funder_award_id":"U01DK085545","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G4564523314","display_name":"NIDDM Susceptibility Genes in Mexican Americans","funder_award_id":"R01DK047482","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G6480248478","display_name":"Genetics of Gallbladder Disease in Mexican Americans","funder_award_id":"R01DK053889","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G725404114","display_name":null,"funder_award_id":"P01 HL045222","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G736005061","display_name":"Genetic Analysis of Common Diseases: An Evaluation","funder_award_id":"R01GM031575","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320313513","display_name":"Texas Biomedical Research Institute","ror":null},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2018535772.pdf","grobid_xml":"https://content.openalex.org/works/W2018535772.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1998004344","https://openalex.org/W2001629081","https://openalex.org/W2005191830","https://openalex.org/W2012642411","https://openalex.org/W2053725906","https://openalex.org/W2058148991","https://openalex.org/W2090968039","https://openalex.org/W2097349182","https://openalex.org/W2102622802","https://openalex.org/W2125776049","https://openalex.org/W2162530578"],"related_works":["https://openalex.org/W7095766871","https://openalex.org/W2130067205","https://openalex.org/W2058148991","https://openalex.org/W1847371588","https://openalex.org/W2090968039","https://openalex.org/W2125776049","https://openalex.org/W2098959705","https://openalex.org/W2921159822","https://openalex.org/W2555461444","https://openalex.org/W2979683718"],"abstract_inverted_index":{"Genome-wide":[0],"association":[1,24,38,69],"studies":[2],"are":[3,19],"very":[4,20],"powerful":[5],"in":[6,22,37,75],"determining":[7],"the":[8,16,46,105,113,118],"genetic":[9,106],"variants":[10,27,36],"affecting":[11],"complex":[12,29,40],"diseases.":[13,30],"Most":[14],"of":[15,62,111,125],"available":[17,48],"methods":[18,32,65],"useful":[21],"detecting":[23],"between":[25],"common":[26,108],"and":[28,59,86,96,109,117],"Recently,":[31],"to":[33],"detect":[34],"rare":[35],"with":[39,45],"diseases":[41],"have":[42],"been":[43],"developed":[44],"increasingly":[47],"sequencing":[49,73],"data":[50,74,115,120],"from":[51],"next-generation":[52],"sequencing.":[53],"In":[54],"this":[55],"paper,":[56],"we":[57],"evaluate":[58],"compare":[60],"several":[61],"these":[63],"recent":[64],"for":[66,90],"performing":[67],"statistical":[68],"using":[70],"whole":[71],"genome":[72],"pedigrees.":[76],"Specifically,":[77],"functional":[78],"principal":[79],"component":[80],"analysis":[81],"(FPCA),":[82],"extended":[83],"combined":[84],"multivariate":[85],"collapsing":[87],"(CMC)":[88],"method":[89],"families,":[91],"a":[92],"generalized":[93],"T(2)":[94],"method,":[95],"chi-square":[97],"minimum":[98],"approach":[99],"were":[100],"compared":[101],"by":[102],"analyzing":[103],"all":[104],"variants,":[107],"rare,":[110],"both":[112],"real":[114],"set":[116,121],"simulated":[119],"provided":[122],"as":[123],"part":[124],"Genetic":[126],"Analysis":[127],"Workshop":[128],"18.":[129]},"counts_by_year":[{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
