{"id":"https://openalex.org/W2280781077","doi":"https://doi.org/10.1093/bioinformatics/btw079","title":"RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data","display_name":"RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data","publication_year":2016,"publication_date":"2016-02-15","ids":{"openalex":"https://openalex.org/W2280781077","doi":"https://doi.org/10.1093/bioinformatics/btw079","mag":"2280781077","pmid":"https://pubmed.ncbi.nlm.nih.gov/27153000"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btw079","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw079","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/9/1423/49019551/bioinformatics_32_9_1423.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","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":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/32/9/1423/49019551/bioinformatics_32_9_1423.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100707493","display_name":"Xiaowei Zhan","orcid":"https://orcid.org/0000-0002-6249-7193"},"institutions":[{"id":"https://openalex.org/I4210098931","display_name":"Quantitative BioSciences","ror":"https://ror.org/010brsj79","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210098931"]},{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Xiaowei Zhan","raw_affiliation_strings":["1 Department of Clinical Science, Quantitative Biomedical Research Center,","2 Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Clinical Science, Quantitative Biomedical Research Center,","institution_ids":["https://openalex.org/I4210098931"]},{"raw_affiliation_string":"2 Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA,","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017009982","display_name":"Youna Hu","orcid":null},"institutions":[{"id":"https://openalex.org/I1328728281","display_name":"MACOM (United States)","ror":"https://ror.org/04wf6rg14","country_code":"US","type":"company","lineage":["https://openalex.org/I1328728281"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Youna Hu","raw_affiliation_strings":["3 A9.Com Inc, Palo Alto, CA 94301, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"3 A9.Com Inc, Palo Alto, CA 94301, USA,","institution_ids":["https://openalex.org/I1328728281"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028708641","display_name":"Bingshan Li","orcid":"https://orcid.org/0000-0003-2129-168X"},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bingshan Li","raw_affiliation_strings":["4 Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37240, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4 Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37240, USA,","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078559681","display_name":"Gon\u00e7alo R. Abecasis","orcid":"https://orcid.org/0000-0003-1509-1825"},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Goncalo R. Abecasis","raw_affiliation_strings":["5 Center of Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"5 Center of Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA,","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044571272","display_name":"Dajiang J. Liu","orcid":"https://orcid.org/0000-0001-6553-858X"},"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":true,"raw_author_name":"Dajiang J. Liu","raw_affiliation_strings":["6 Division of Biostatistics and Bioinformatics, Department of Public Health Sciences, Penn State College of Medicine, Hershey, PA 17033, USA and","7 Institute for Personalized Medicine, Penn State College of Medicine, Hershey, PA 17033, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"6 Division of Biostatistics and Bioinformatics, Department of Public Health Sciences, Penn State College of Medicine, Hershey, PA 17033, USA and","institution_ids":["https://openalex.org/I130769515"]},{"raw_affiliation_string":"7 Institute for Personalized Medicine, Penn State College of Medicine, Hershey, PA 17033, USA","institution_ids":["https://openalex.org/I130769515"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5044571272","https://openalex.org/A5078559681","https://openalex.org/A5100707493"],"corresponding_institution_ids":["https://openalex.org/I130769515","https://openalex.org/I27837315","https://openalex.org/I4210098931","https://openalex.org/I867280407"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":30.8672,"has_fulltext":true,"cited_by_count":460,"citation_normalized_percentile":{"value":0.99731713,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"32","issue":"9","first_page":"1423","last_page":"1426"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9865000247955322,"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":0.9865000247955322,"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":0.008899999782443047,"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.0005000000237487257,"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/executable","display_name":"Executable","score":0.824809193611145},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6048842668533325},{"id":"https://openalex.org/keywords/source-code","display_name":"Source code","score":0.508887767791748},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.5020706653594971},{"id":"https://openalex.org/keywords/sequence","display_name":"Sequence (biology)","score":0.48605138063430786},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.4777873456478119},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.4684075713157654},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3899480402469635},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.25574517250061035},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.22880256175994873},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.10232490301132202}],"concepts":[{"id":"https://openalex.org/C160145156","wikidata":"https://www.wikidata.org/wiki/Q778586","display_name":"Executable","level":2,"score":0.824809193611145},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6048842668533325},{"id":"https://openalex.org/C43126263","wikidata":"https://www.wikidata.org/wiki/Q128751","display_name":"Source code","level":2,"score":0.508887767791748},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.5020706653594971},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.48605138063430786},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.4777873456478119},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.4684075713157654},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3899480402469635},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25574517250061035},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.22880256175994873},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.10232490301132202}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"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":"D011381","descriptor_name":"Programming Languages","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011381","descriptor_name":"Programming Languages","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011381","descriptor_name":"Programming Languages","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011381","descriptor_name":"Programming Languages","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011381","descriptor_name":"Programming Languages","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","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":"D014644","descriptor_name":"Genetic Variation","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":"D014644","descriptor_name":"Genetic Variation","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":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btw079","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw079","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/9/1423/49019551/bioinformatics_32_9_1423.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:27153000","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27153000","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:open-archive.highwire.org:bioinfo:32/9/1423","is_oa":false,"landing_page_url":"http://bioinformatics.oxfordjournals.org/cgi/content/short/32/9/1423","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"},{"id":"pmh:oai:pubmedcentral.nih.gov:4848408","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4848408","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/btw079","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw079","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/9/1423/49019551/bioinformatics_32_9_1423.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.4300000071525574,"id":"https://metadata.un.org/sdg/9","display_name":"Industry, innovation and infrastructure"}],"awards":[{"id":"https://openalex.org/G1675939716","display_name":null,"funder_award_id":"R21 DA040177","funder_id":"https://openalex.org/F4320337347","funder_display_name":"National Institute on Drug Abuse"},{"id":"https://openalex.org/G2374905200","display_name":null,"funder_award_id":"R01 HG007022","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G3066491879","display_name":null,"funder_award_id":"R01HG007022","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3171909103","display_name":null,"funder_award_id":"U01 HL117626","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G494965562","display_name":null,"funder_award_id":"R01HG006857","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6252000150","display_name":null,"funder_award_id":"R01 HG008983","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G7075456907","display_name":null,"funder_award_id":"R01 DA037904","funder_id":"https://openalex.org/F4320337347","funder_display_name":"National Institute on Drug Abuse"},{"id":"https://openalex.org/G7301919874","display_name":null,"funder_award_id":"R01 HG006857","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G8290436239","display_name":null,"funder_award_id":"R01 DK075787","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337347","display_name":"National Institute on Drug Abuse","ror":"https://ror.org/00fq5cm18"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"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/W2280781077.pdf","grobid_xml":"https://content.openalex.org/works/W2280781077.grobid-xml"},"referenced_works_count":18,"referenced_works":["https://openalex.org/W1983759092","https://openalex.org/W1984068087","https://openalex.org/W1990430353","https://openalex.org/W2038015622","https://openalex.org/W2058148991","https://openalex.org/W2063655230","https://openalex.org/W2065125274","https://openalex.org/W2078129874","https://openalex.org/W2079927753","https://openalex.org/W2106578986","https://openalex.org/W2122492792","https://openalex.org/W2133517490","https://openalex.org/W2150761237","https://openalex.org/W2151854382","https://openalex.org/W2152325859","https://openalex.org/W2156449475","https://openalex.org/W2161605743","https://openalex.org/W2163953557"],"related_works":["https://openalex.org/W2350278424","https://openalex.org/W2071432835","https://openalex.org/W4239401009","https://openalex.org/W4234371507","https://openalex.org/W1628824497","https://openalex.org/W2598672065","https://openalex.org/W1993817217","https://openalex.org/W3120610872","https://openalex.org/W1638297612","https://openalex.org/W2523911541"],"abstract_inverted_index":{"MOTIVATION:":[0],"Next-generation":[1],"sequencing":[2],"technologies":[3],"have":[4],"enabled":[5],"the":[6,10,71,80,124,159,168],"large-scale":[7],"assessment":[8],"of":[9,12,57,84,117,126,161],"impact":[11],"rare":[13,30,34,118],"and":[14,67,75,82,88,122,128,134,154,165,182,186],"low-frequency":[15],"genetic":[16],"variants":[17,35,130],"for":[18,96,131,143],"complex":[19],"human":[20],"diseases.":[21],"Gene-level":[22],"association":[23,45,120],"tests":[24,46],"are":[25,40,202],"often":[26,51],"performed":[27],"to":[28,47,69,101],"analyze":[29,48],"variants,":[31,146],"where":[32],"multiple":[33,54],"in":[36,163],"a":[37,93,114],"gene":[38],"region":[39],"analyzed":[41],"jointly.":[42],"Applying":[43],"gene-level":[44],"sequence":[49,86,145],"data":[50,151,201],"requires":[52],"integrating":[53,147],"heterogeneous":[55],"sources":[56],"information":[58],"(e.g.":[59],"annotations,":[60],"functional":[61],"prediction":[62],"scores,":[63],"allele":[64],"frequencies,":[65],"genotypes":[66],"phenotypes)":[68],"determine":[70],"optimal":[72],"analysis":[73,125],"unit":[74],"prioritize":[76],"causal":[77],"variants.":[78],"Given":[79],"complexity":[81],"scale":[83],"current":[85],"datasets":[87],"bioinformatics":[89,148],"databases,":[90,149],"there":[91],"is":[92,177],"compelling":[94],"need":[95],"more":[97],"efficient":[98],"software":[99],"tools":[100],"facilitate":[102],"these":[103],"analyses.":[104],"To":[105],"answer":[106],"this":[107],"challenge,":[108],"we":[109],"developed":[110],"RVTESTS,":[111],"which":[112],"implements":[113],"broad":[115],"set":[116],"variant":[119],"statistics":[121],"supports":[123],"autosomal":[127],"X-linked":[129],"both":[132],"unrelated":[133],"related":[135],"individuals.":[136],"RVTESTS":[137,162,176],"also":[138],"provides":[139],"useful":[140],"companion":[141],"features":[142],"annotating":[144],"performing":[150],"quality":[152],"control":[153],"sample":[155],"selection.":[156],"We":[157],"illustrate":[158],"advantages":[160],"functionality":[164],"efficiency":[166],"using":[167],"1000":[169],"Genomes":[170],"Project":[171],"data.":[172],"AVAILABILITY":[173],"AND":[174],"IMPLEMENTATION:":[175],"available":[178,203],"on":[179],"Linux,":[180],"MacOS":[181],"Windows.":[183],"Source":[184],"code":[185],"executable":[187],"files":[188],"can":[189],"be":[190],"obtained":[191],"at":[192,204],"https://github.com/zhanxw/rvtests":[193],"CONTACT:":[194],"zhanxw@gmail.com;":[195],"goncalo@umich.edu;":[196],"dajiang.liu@outlook.com":[197],"SUPPLEMENTARY":[198],"INFORMATION:":[199],"Supplementary":[200],"Bioinformatics":[205],"online.":[206]},"counts_by_year":[{"year":2026,"cited_by_count":12},{"year":2025,"cited_by_count":46},{"year":2024,"cited_by_count":42},{"year":2023,"cited_by_count":50},{"year":2022,"cited_by_count":51},{"year":2021,"cited_by_count":76},{"year":2020,"cited_by_count":69},{"year":2019,"cited_by_count":56},{"year":2018,"cited_by_count":36},{"year":2017,"cited_by_count":21}],"updated_date":"2026-07-15T18:14:33.161393","created_date":"2025-10-10T00:00:00"}
