{"id":"https://openalex.org/W1965169558","doi":"https://doi.org/10.1186/1471-2105-15-104","title":"BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity","display_name":"BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity","publication_year":2014,"publication_date":"2014-04-12","ids":{"openalex":"https://openalex.org/W1965169558","doi":"https://doi.org/10.1186/1471-2105-15-104","mag":"1965169558","pmid":"https://pubmed.ncbi.nlm.nih.gov/24725768"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2105-15-104","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-15-104","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-15-104","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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 Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-15-104","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5056967998","display_name":"Brandi L. Cantarel","orcid":"https://orcid.org/0000-0003-4126-4478"},"institutions":[{"id":"https://openalex.org/I157394403","display_name":"Baylor University","ror":"https://ror.org/005781934","country_code":"US","type":"education","lineage":["https://openalex.org/I157394403"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brandi L Cantarel","raw_affiliation_strings":["Baylor Health, Baylor Institute for Immunology Research, Dallas, TX, 75204, USA","Baylor Health, Baylor Institute for Immunology Research, Dallas, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor Health, Baylor Institute for Immunology Research, Dallas, TX, 75204, USA","institution_ids":["https://openalex.org/I157394403"]},{"raw_affiliation_string":"Baylor Health, Baylor Institute for Immunology Research, Dallas, USA","institution_ids":["https://openalex.org/I157394403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005441155","display_name":"Daniel Weaver","orcid":null},"institutions":[{"id":"https://openalex.org/I4210106949","display_name":"BioFormatix (United States)","ror":"https://ror.org/02edynn23","country_code":"US","type":"company","lineage":["https://openalex.org/I4210106949"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel Weaver","raw_affiliation_strings":["Genformatic, LLC, Austin, TX, 78731, USA","Genformatic, LLC, Austin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genformatic, LLC, Austin, TX, 78731, USA","institution_ids":["https://openalex.org/I4210106949"]},{"raw_affiliation_string":"Genformatic, LLC, Austin, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089754602","display_name":"Nathan McNeill","orcid":"https://orcid.org/0000-0001-9688-5728"},"institutions":[{"id":"https://openalex.org/I157394403","display_name":"Baylor University","ror":"https://ror.org/005781934","country_code":"US","type":"education","lineage":["https://openalex.org/I157394403"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nathan McNeill","raw_affiliation_strings":["Baylor Health, Baylor Institute for Immunology Research, Dallas, TX, 75204, USA","Baylor Health, Baylor Institute for Immunology Research, Dallas, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Baylor Health, Baylor Institute for Immunology Research, Dallas, TX, 75204, USA","institution_ids":["https://openalex.org/I157394403"]},{"raw_affiliation_string":"Baylor Health, Baylor Institute for Immunology Research, Dallas, USA","institution_ids":["https://openalex.org/I157394403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100434755","display_name":"Jianhua Zhang","orcid":"https://orcid.org/0000-0001-5412-9860"},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jianhua Zhang","raw_affiliation_strings":["Institute for Applied Cancer Science, University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA","Institute for Applied Cancer Science, University of Texas MD Anderson Cancer Center, Houston, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Applied Cancer Science, University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA","institution_ids":["https://openalex.org/I1343551460"]},{"raw_affiliation_string":"Institute for Applied Cancer Science, University of Texas MD Anderson Cancer Center, Houston, USA","institution_ids":["https://openalex.org/I1343551460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074405433","display_name":"Aaron J. Mackey","orcid":"https://orcid.org/0000-0003-4734-5324"},"institutions":[{"id":"https://openalex.org/I51556381","display_name":"University of Virginia","ror":"https://ror.org/0153tk833","country_code":"US","type":"education","lineage":["https://openalex.org/I51556381"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Aaron J Mackey","raw_affiliation_strings":["Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA","Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA","institution_ids":["https://openalex.org/I51556381"]},{"raw_affiliation_string":"Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073533486","display_name":"Justin Reese","orcid":"https://orcid.org/0000-0002-2170-2250"},"institutions":[{"id":"https://openalex.org/I4210106659","display_name":"Gen-9 (United States)","ror":"https://ror.org/01t4t8r38","country_code":"US","type":"company","lineage":["https://openalex.org/I4210106659"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Justin Reese","raw_affiliation_strings":["Genformatic, LLC, Austin, TX 78731, USA. jreese@genformatic.com","Genformatic, LLC, Austin, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genformatic, LLC, Austin, TX 78731, USA. jreese@genformatic.com","institution_ids":["https://openalex.org/I4210106659"]},{"raw_affiliation_string":"Genformatic, LLC, Austin, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5073533486"],"corresponding_institution_ids":["https://openalex.org/I4210106659"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":2.7937,"has_fulltext":true,"cited_by_count":65,"citation_normalized_percentile":{"value":0.90148414,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"15","issue":"1","first_page":"104","last_page":"104"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.585099995136261,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.585099995136261,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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":0.2784000039100647,"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":0.042899999767541885,"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/false-positive-paradox","display_name":"False positive paradox","score":0.641187846660614},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5536914467811584},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.5435199737548828},{"id":"https://openalex.org/keywords/bayesian-probability","display_name":"Bayesian probability","score":0.5216296315193176},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.48689737915992737},{"id":"https://openalex.org/keywords/false-positive-rate","display_name":"False positive rate","score":0.46446508169174194},{"id":"https://openalex.org/keywords/posterior-probability","display_name":"Posterior probability","score":0.44824275374412537},{"id":"https://openalex.org/keywords/false-discovery-rate","display_name":"False discovery rate","score":0.4471625089645386},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.4386090636253357},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.35645562410354614},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.3549949526786804},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.352155864238739},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.3509364724159241},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.30055832862854004},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.19709229469299316},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1534501612186432}],"concepts":[{"id":"https://openalex.org/C64869954","wikidata":"https://www.wikidata.org/wiki/Q1859747","display_name":"False positive paradox","level":2,"score":0.641187846660614},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5536914467811584},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5435199737548828},{"id":"https://openalex.org/C107673813","wikidata":"https://www.wikidata.org/wiki/Q812534","display_name":"Bayesian probability","level":2,"score":0.5216296315193176},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.48689737915992737},{"id":"https://openalex.org/C95922358","wikidata":"https://www.wikidata.org/wiki/Q5432725","display_name":"False positive rate","level":2,"score":0.46446508169174194},{"id":"https://openalex.org/C57830394","wikidata":"https://www.wikidata.org/wiki/Q278079","display_name":"Posterior probability","level":3,"score":0.44824275374412537},{"id":"https://openalex.org/C193244246","wikidata":"https://www.wikidata.org/wiki/Q5432696","display_name":"False discovery rate","level":3,"score":0.4471625089645386},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4386090636253357},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.35645562410354614},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3549949526786804},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.352155864238739},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.3509364724159241},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30055832862854004},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.19709229469299316},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1534501612186432}],"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":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011336","descriptor_name":"Probability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011336","descriptor_name":"Probability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011336","descriptor_name":"Probability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012985","descriptor_name":"Software Design","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012985","descriptor_name":"Software Design","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012985","descriptor_name":"Software Design","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1186/1471-2105-15-104","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-15-104","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-15-104","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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 Bioinformatics","raw_type":"journal-article"},{"id":"pmid:24725768","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24725768","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:europepmc.org:2991694","is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3999887","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"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":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3999887","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3999887","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1186/1471-2105-15-104","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-15-104","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-15-104","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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 Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Partnerships for the goals","id":"https://metadata.un.org/sdg/17","score":0.4099999964237213}],"awards":[],"funders":[{"id":"https://openalex.org/F4320332521","display_name":"University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1965169558.pdf","grobid_xml":"https://content.openalex.org/works/W1965169558.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W1586405805","https://openalex.org/W1596062789","https://openalex.org/W1989773675","https://openalex.org/W1996641286","https://openalex.org/W2015759847","https://openalex.org/W2037055206","https://openalex.org/W2061043894","https://openalex.org/W2079116674","https://openalex.org/W2096791516","https://openalex.org/W2108234281","https://openalex.org/W2119180969","https://openalex.org/W2124465358","https://openalex.org/W2127204575","https://openalex.org/W2130626344","https://openalex.org/W2131039280","https://openalex.org/W2134638008","https://openalex.org/W2138531002","https://openalex.org/W2138601221","https://openalex.org/W2143335572","https://openalex.org/W2146290346","https://openalex.org/W2147733682","https://openalex.org/W2149992227","https://openalex.org/W2153027378","https://openalex.org/W2153220158","https://openalex.org/W2155943701","https://openalex.org/W2159512882","https://openalex.org/W2164804555","https://openalex.org/W2168133698","https://openalex.org/W3098304617"],"related_works":["https://openalex.org/W2020413892","https://openalex.org/W2128909276","https://openalex.org/W1991225657","https://openalex.org/W1825621501","https://openalex.org/W101962219","https://openalex.org/W256699647","https://openalex.org/W2066371588","https://openalex.org/W2389124870","https://openalex.org/W2102122784","https://openalex.org/W2093463665"],"abstract_inverted_index":{"BACKGROUND:":[0],"Accurate":[1],"genomic":[2],"variant":[3,54,72,91,192,239,251,256,264,276],"detection":[4,193,236],"is":[5],"an":[6,119],"essential":[7],"step":[8],"in":[9,25,42,177,188,301],"gleaning":[10],"medically":[11],"useful":[12],"information":[13],"from":[14,76,201,215],"genome":[15,31,43,90],"data.":[16],"However,":[17],"low":[18,197],"concordance":[19],"among":[20],"variant-calling":[21,230],"methods":[22,59,194],"reduces":[23],"confidence":[24],"the":[26,97,148,159,164,173,184,270,275,302],"clinical":[27],"validity":[28],"of":[29,71,89,109,186,249,262,274,286,297,304],"whole":[30],"and":[32,36,130,154,211,237,272],"exome":[33,208,212],"sequence":[34],"data,":[35],"confounds":[37],"downstream":[38],"analysis":[39,125],"for":[40,86,135,151,169,179,233,246],"applications":[41],"medicine.Here":[44],"we":[45],"describe":[46],"BAYSIC":[47,74,99,117,187,242,268,289],"(BAYeSian":[48],"Integrated":[49],"Caller),":[50],"which":[51],"combines":[52],"SNP":[53,250,263],"calls":[55,252,265,277],"produced":[56,253,266],"by":[57,254,267],"different":[58,255],"(e.g.":[60],"GATK,":[61],"FreeBayes,":[62],"Atlas,":[63],"SamTools,":[64],"etc.)":[65],"into":[66],"a":[67,106,142,206,244],"more":[68],"accurate":[69],"set":[70,261],"calls.":[73,92],"differs":[75],"majority":[77],"voting,":[78],"consensus":[79],"or":[80],"other":[81,94,191],"ad":[82],"hoc":[83],"intersection-based":[84],"schemes":[85],"combining":[87,247,284],"sets":[88,248,285,296],"Unlike":[93],"classification":[95],"methods,":[96],"underlying":[98],"model":[100],"does":[101],"not":[102],"require":[103],"training":[104],"using":[105,195],"\"gold":[107],"standard\"":[108],"true":[110],"positives.":[111],"Rather,":[112],"with":[113],"each":[114,136],"new":[115],"dataset,":[116],"performs":[118],"unsupervised,":[120],"fully":[121],"Bayesian":[122],"latent":[123],"class":[124],"to":[126,147,166,190,221,283,294],"estimate":[127],"false":[128,131,152,155],"positive":[129,153,216],"negative":[132,156],"error":[133],"rates":[134],"input":[137],"method.":[138],"The":[139,202,259],"user":[140,165],"specifies":[141],"posterior":[143,160],"probability":[144,161],"threshold":[145,162,174],"according":[146],"user's":[149],"tolerance":[150],"errors;":[157],"lowering":[158],"allows":[163],"trade":[167],"specificity":[168,176,273],"sensitivity":[170,271],"while":[171],"raising":[172],"increases":[175],"exchange":[178],"sensitivity.":[180],"RESULTS:":[181],"We":[182,226],"assessed":[183],"performance":[185],"comparison":[189],"ten":[196],"coverage":[198],"(~5X)":[199],"samples":[200,218],"1000":[203],"Genomes":[204],"Project,":[205],"tumor/normal":[207,305],"pair":[209],"(40X),":[210],"sequences":[213],"(40X)":[214],"control":[217],"previously":[219],"identified":[220],"contain":[222],"clinically":[223],"relevant":[224],"SNPs.":[225],"demonstrated":[227],"BAYSIC's":[228],"superior":[229],"accuracy,":[231],"both":[232],"somatic":[234,298],"mutation":[235],"germline":[238,287],"detection.":[240],"CONCLUSIONS:":[241],"provides":[243],"method":[245],"calling":[257],"programs.":[258],"integrated":[260],"improves":[269],"used":[278,293],"as":[279],"input.":[280],"In":[281],"addition":[282],"variants,":[288],"can":[290],"also":[291],"be":[292],"combine":[295],"mutations":[299],"detected":[300],"context":[303],"sequencing":[306],"experiments.":[307]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":10},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":11},{"year":2015,"cited_by_count":9}],"updated_date":"2026-06-19T15:47:20.252518","created_date":"2025-10-10T00:00:00"}
