{"id":"https://openalex.org/W2617465721","doi":"https://doi.org/10.1093/bioinformatics/btx355","title":"Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data","display_name":"Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data","publication_year":2017,"publication_date":"2017-05-30","ids":{"openalex":"https://openalex.org/W2617465721","doi":"https://doi.org/10.1093/bioinformatics/btx355","mag":"2617465721","pmid":"https://pubmed.ncbi.nlm.nih.gov/28575251"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btx355","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx355","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/19/3058/25164871/btx355.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","license_id":"https://openalex.org/licenses/cc-by","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/33/19/3058/25164871/btx355.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113868851","display_name":"Dimitrios V. Vavoulis","orcid":null},"institutions":[{"id":"https://openalex.org/I125671874","display_name":"National Health Service","ror":"https://ror.org/02wnqcb97","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I125671874","https://openalex.org/I1311074006"]},{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I34931013","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08","country_code":"GB","type":"government","lineage":["https://openalex.org/I34931013"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Dimitrios V Vavoulis","raw_affiliation_strings":["National Health Service Translational Molecular Diagnostics Centre, Oxford University Hospitals, John Radcliffe Hospital, Oxford, UK","National Institute for Health Research Oxford Biomedical Research Centre, Oxford, UK","The Nuffield Division of Clinical Laboratory Sciences, University of Oxford, Oxford, UK","The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Health Service Translational Molecular Diagnostics Centre, Oxford University Hospitals, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I125671874","https://openalex.org/I40120149"]},{"raw_affiliation_string":"National Institute for Health Research Oxford Biomedical Research Centre, Oxford, UK","institution_ids":["https://openalex.org/I34931013"]},{"raw_affiliation_string":"The Nuffield Division of Clinical Laboratory Sciences, University of Oxford, Oxford, UK","institution_ids":["https://openalex.org/I40120149"]},{"raw_affiliation_string":"The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007519527","display_name":"Jenny C. Taylor","orcid":"https://orcid.org/0000-0003-3602-5704"},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I34931013","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08","country_code":"GB","type":"government","lineage":["https://openalex.org/I34931013"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jenny C Taylor","raw_affiliation_strings":["National Institute for Health Research Oxford Biomedical Research Centre, Oxford, UK","The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute for Health Research Oxford Biomedical Research Centre, Oxford, UK","institution_ids":["https://openalex.org/I34931013"]},{"raw_affiliation_string":"The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074839524","display_name":"Anna Schuh","orcid":"https://orcid.org/0000-0002-3938-8490"},"institutions":[{"id":"https://openalex.org/I125671874","display_name":"National Health Service","ror":"https://ror.org/02wnqcb97","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I125671874","https://openalex.org/I1311074006"]},{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I34931013","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08","country_code":"GB","type":"government","lineage":["https://openalex.org/I34931013"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Anna Schuh","raw_affiliation_strings":["Department of Oncology, University of Oxford, Oxford, UK","National Health Service Translational Molecular Diagnostics Centre, Oxford University Hospitals, John Radcliffe Hospital, Oxford, UK","National Institute for Health Research Oxford Biomedical Research Centre, Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Oncology, University of Oxford, Oxford, UK","institution_ids":["https://openalex.org/I40120149"]},{"raw_affiliation_string":"National Health Service Translational Molecular Diagnostics Centre, Oxford University Hospitals, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I125671874","https://openalex.org/I40120149"]},{"raw_affiliation_string":"National Institute for Health Research Oxford Biomedical Research Centre, Oxford, UK","institution_ids":["https://openalex.org/I34931013"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5113868851"],"corresponding_institution_ids":["https://openalex.org/I125671874","https://openalex.org/I1336263701","https://openalex.org/I2802742124","https://openalex.org/I34931013","https://openalex.org/I40120149"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":2068,"currency":"EUR","value_usd":2230},"fwci":0.8742,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.78144897,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":96},"biblio":{"volume":"33","issue":"19","first_page":"3058","last_page":"3064"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9988999962806702,"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":0.9988999962806702,"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/T10885","display_name":"Gene expression and cancer classification","score":0.9958999752998352,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.9926999807357788,"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/computer-science","display_name":"Computer science","score":0.5852437615394592},{"id":"https://openalex.org/keywords/negative-binomial-distribution","display_name":"Negative binomial distribution","score":0.4846956729888916},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.46286022663116455},{"id":"https://openalex.org/keywords/laplaces-method","display_name":"Laplace's method","score":0.43810051679611206},{"id":"https://openalex.org/keywords/transformation","display_name":"Transformation (genetics)","score":0.43447864055633545},{"id":"https://openalex.org/keywords/statistical-model","display_name":"Statistical model","score":0.42236828804016113},{"id":"https://openalex.org/keywords/bayesian-probability","display_name":"Bayesian probability","score":0.4187983572483063},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.34637805819511414},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.33197087049484253},{"id":"https://openalex.org/keywords/poisson-distribution","display_name":"Poisson distribution","score":0.2786678075790405},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.24249404668807983},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.22207608819007874},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.13922551274299622},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.13321590423583984},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.11331945657730103}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5852437615394592},{"id":"https://openalex.org/C199335787","wikidata":"https://www.wikidata.org/wiki/Q743364","display_name":"Negative binomial distribution","level":3,"score":0.4846956729888916},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.46286022663116455},{"id":"https://openalex.org/C22243797","wikidata":"https://www.wikidata.org/wiki/Q2058297","display_name":"Laplace's method","level":3,"score":0.43810051679611206},{"id":"https://openalex.org/C204241405","wikidata":"https://www.wikidata.org/wiki/Q461499","display_name":"Transformation (genetics)","level":3,"score":0.43447864055633545},{"id":"https://openalex.org/C114289077","wikidata":"https://www.wikidata.org/wiki/Q3284399","display_name":"Statistical model","level":2,"score":0.42236828804016113},{"id":"https://openalex.org/C107673813","wikidata":"https://www.wikidata.org/wiki/Q812534","display_name":"Bayesian probability","level":2,"score":0.4187983572483063},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.34637805819511414},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.33197087049484253},{"id":"https://openalex.org/C100906024","wikidata":"https://www.wikidata.org/wiki/Q205692","display_name":"Poisson distribution","level":2,"score":0.2786678075790405},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.24249404668807983},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.22207608819007874},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.13922551274299622},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.13321590423583984},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11331945657730103},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.0}],"mesh":[{"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":"D012984","descriptor_name":"Software","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":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D040641","descriptor_name":"Quantitative Trait Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btx355","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx355","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/19/3058/25164871/btx355.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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:28575251","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28575251","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:europepmc.org:4562802","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5637939","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":null,"raw_type":"Text"},{"id":"pmh:oai:ora.ox.ac.uk:uuid:4caec00b-3182-4aae-9f5d-ae865f162130","is_oa":true,"landing_page_url":"https://ora.ox.ac.uk/objects/uuid:4caec00b-3182-4aae-9f5d-ae865f162130","pdf_url":null,"source":{"id":"https://openalex.org/S4306402636","display_name":"Oxford University Research Archive (ORA) (University of Oxford)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I40120149","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/I40120149"],"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":"Journal article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btx355","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx355","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/19/3058/25164871/btx355.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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/17","score":0.49000000953674316,"display_name":"Partnerships for the goals"}],"awards":[{"id":"https://openalex.org/G8946600302","display_name":null,"funder_award_id":"090532/Z/09/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":39,"referenced_works":["https://openalex.org/W129305155","https://openalex.org/W1625086225","https://openalex.org/W1969415786","https://openalex.org/W1975341011","https://openalex.org/W1981509058","https://openalex.org/W1982652137","https://openalex.org/W1993616000","https://openalex.org/W1994018858","https://openalex.org/W1996984681","https://openalex.org/W2025943989","https://openalex.org/W2049228615","https://openalex.org/W2050029156","https://openalex.org/W2054054342","https://openalex.org/W2065776802","https://openalex.org/W2074414424","https://openalex.org/W2098827594","https://openalex.org/W2099878672","https://openalex.org/W2100697281","https://openalex.org/W2104549677","https://openalex.org/W2108797218","https://openalex.org/W2109553965","https://openalex.org/W2110017531","https://openalex.org/W2112840798","https://openalex.org/W2114405789","https://openalex.org/W2123579165","https://openalex.org/W2135194391","https://openalex.org/W2137526110","https://openalex.org/W2140001244","https://openalex.org/W2142260323","https://openalex.org/W2152438005","https://openalex.org/W2158195707","https://openalex.org/W2171863224","https://openalex.org/W2179438025","https://openalex.org/W2196135315","https://openalex.org/W2313339984","https://openalex.org/W2417483443","https://openalex.org/W2581246226","https://openalex.org/W3098360732","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W2323218782","https://openalex.org/W2478255074","https://openalex.org/W2404800752","https://openalex.org/W1981276613","https://openalex.org/W2138213559","https://openalex.org/W4301406104","https://openalex.org/W2116063176","https://openalex.org/W2060817938","https://openalex.org/W4386236780","https://openalex.org/W2950055170"],"abstract_inverted_index":{"MOTIVATION:":[0],"The":[1,78],"identification":[2],"of":[3,24,45,53,107,114,168,173,177,187],"genetic":[4,22],"variants":[5],"influencing":[6],"gene":[7,70],"expression":[8,11,71],"(known":[9],"as":[10,142,193,195],"quantitative":[12],"trait":[13],"loci":[14],"or":[15,64],"eQTLs)":[16],"is":[17,86,190,210],"important":[18],"in":[19,31,118,244],"unravelling":[20],"the":[21,105,111,155,171,213,245],"basis":[23],"complex":[25],"traits.":[26],"Detecting":[27],"multiple":[28],"eQTLs":[29],"simultaneously":[30],"a":[32,60,119,166],"population":[33],"based":[34],"on":[35,50],"paired":[36],"DNA-seq":[37],"and":[38,110,134,139,150,158,175],"RNA-seq":[39,54,131],"assays":[40],"employs":[41],"two":[42],"competing":[43],"types":[44],"models:":[46],"models":[47,233],"which":[48,67,85,98],"rely":[49],"appropriate":[51,112],"transformations":[52,76],"data":[55,153,189,255],"(and":[56],"are":[57,99,242,256],"powered":[58],"by":[59,89],"mature":[61],"mathematical":[62,90],"theory),":[63],"count-based":[65,96,230],"models,":[66,97,197],"represent":[68],"digital":[69],"explicitly,":[72],"thus":[73],"rendering":[74],"such":[75],"unnecessary.":[77],"latter":[79],"constitutes":[80],"an":[81,184,206],"immensely":[82],"popular":[83],"methodology,":[84],"however":[87],"plagued":[88],"intractability.":[91],"RESULTS:":[92],"We":[93,181],"develop":[94],"tractable":[95],"amenable":[100],"to":[101,212,220],"efficient":[102],"estimation":[103],"through":[104],"introduction":[106],"latent":[108],"variables":[109],"application":[113],"recent":[115],"statistical":[116],"theory":[117],"sparse":[120],"Bayesian":[121],"modelling":[122],"framework.":[123],"Furthermore,":[124,202],"we":[125,135,161,203],"examine":[126],"several":[127],"transformation":[128,186],"methods":[129,241],"for":[130,145,227,234],"read":[132],"counts":[133],"introduce":[136],"arcsin,":[137],"logit":[138],"Laplace":[140],"smoothing":[141],"preprocessing":[143],"steps":[144],"transformation-based":[146,228],"models.":[147],"Using":[148],"natural":[149],"carefully":[151],"simulated":[152],"from":[154],"1000":[156],"Genomes":[157],"gEUVADIS":[159],"projects,":[160],"benchmark":[162],"both":[163],"approaches":[164],"under":[165],"variety":[167],"scenarios,":[169],"including":[170],"presence":[172],"noise":[174],"violation":[176],"basic":[178],"model":[179,209],"assumptions.":[180],"demonstrate":[182],"that":[183,205],"arcsin":[185],"Laplace-smoothed":[188],"at":[191,199,258],"least":[192],"good":[194],"state-of-the-art":[196],"particularly":[198],"small":[200],"samples.":[201],"show":[204],"over-dispersed":[207],"Poisson":[208],"comparable":[211],"celebrated":[214],"Negative":[215],"Binomial,":[216],"but":[217],"much":[218],"easier":[219],"estimate.":[221],"These":[222],"results":[223],"provide":[224],"strong":[225],"support":[226],"versus":[229],"(particularly":[231],"Negative-Binomial-based)":[232],"eQTL":[235],"mapping.":[236],"AVAILABILITY":[237],"AND":[238],"IMPLEMENTATION:":[239],"All":[240],"implemented":[243],"free":[246],"software":[247],"eQTLseq:":[248],"https://github.com/dvav/eQTLseq.":[249],"CONTACT:":[250],"dimitris.vavoulis@well.ox.ac.uk.":[251],"SUPPLEMENTARY":[252],"INFORMATION:":[253],"Supplementary":[254],"available":[257],"Bioinformatics":[259],"online.":[260]},"counts_by_year":[{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2}],"updated_date":"2026-06-24T13:16:06.693445","created_date":"2025-10-10T00:00:00"}
