{"id":"https://openalex.org/W2951885137","doi":"https://doi.org/10.1186/s13073-017-0502-5","title":"Genetic variation in human drug-related genes","display_name":"Genetic variation in human drug-related genes","publication_year":2017,"publication_date":"2017-12-01","ids":{"openalex":"https://openalex.org/W2951885137","doi":"https://doi.org/10.1186/s13073-017-0502-5","mag":"2951885137","pmid":"https://pubmed.ncbi.nlm.nih.gov/29273096","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5740940"},"language":"en","primary_location":{"id":"doi:10.1186/s13073-017-0502-5","doi":"https://doi.org/10.1186/s13073-017-0502-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13073-017-0502-5","pdf_url":"https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-017-0502-5","source":{"id":"https://openalex.org/S149201819","display_name":"Genome Medicine","issn_l":"1756-994X","issn":["1756-994X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"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":"Genome Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["arxiv","crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-017-0502-5","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110641820","display_name":"Charlotta Sch\u00e4rfe","orcid":"https://orcid.org/0000-0002-6689-6423","observed_orcids":["https://orcid.org/0000-0002-6689-6423"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE","US"],"is_corresponding":false,"raw_author_name":"Charlotta P.I. Sch\u00e4rfe","raw_affiliation_strings":["Applied Bioinformatics, Dept. of Computer Science, 72076 T\u00fcbingen, Germany","Center for Bioinformatics, University of T\u00fcbingen, 72076, T\u00fcbingen, Germany","Department of Systems Biology, Harvard Medical School, Boston, 02115, Massachusetts, USA","pplied Bioinformatics, Department of Computer Science, 72076, T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Applied Bioinformatics, Dept. of Computer Science, 72076 T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]},{"raw_affiliation_string":"Center for Bioinformatics, University of T\u00fcbingen, 72076, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]},{"raw_affiliation_string":"Department of Systems Biology, Harvard Medical School, Boston, 02115, Massachusetts, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"pplied Bioinformatics, Department of Computer Science, 72076, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073099119","display_name":"Roman Tremmel","orcid":"https://orcid.org/0000-0003-1564-0433","observed_orcids":["https://orcid.org/0000-0003-1564-0433"]},"institutions":[{"id":"https://openalex.org/I4210120009","display_name":"Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology","ror":"https://ror.org/02pnjnj33","country_code":"DE","type":"facility","lineage":["https://openalex.org/I2802101015","https://openalex.org/I4210120009","https://openalex.org/I4403386655"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Roman Tremmel","raw_affiliation_strings":["Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany","Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376, Stuttgart, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany","institution_ids":["https://openalex.org/I4210120009"]},{"raw_affiliation_string":"Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376, Stuttgart, Germany","institution_ids":["https://openalex.org/I4210120009"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057183308","display_name":"Matthias Georg Schwab","orcid":"https://orcid.org/0000-0002-9984-075X","observed_orcids":["https://orcid.org/0000-0002-9984-075X","https://orcid.org/0000-0001-6999-1795"]},"institutions":[{"id":"https://openalex.org/I4210094118","display_name":"Universit\u00e4tsklinikum T\u00fcbingen","ror":"https://ror.org/00pjgxh97","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094118"]},{"id":"https://openalex.org/I4210120009","display_name":"Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology","ror":"https://ror.org/02pnjnj33","country_code":"DE","type":"facility","lineage":["https://openalex.org/I2802101015","https://openalex.org/I4210120009","https://openalex.org/I4403386655"]},{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Matthias Schwab","raw_affiliation_strings":["Department of Clinical Pharmacology, University Hospital T\u00fcbingen, Germany","Department of Pharmacy and Biochemistry, University of T\u00fcbingen, T\u00fcbingen, Germany","Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany","Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376, Stuttgart, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Pharmacology, University Hospital T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I4210094118"]},{"raw_affiliation_string":"Department of Pharmacy and Biochemistry, University of T\u00fcbingen, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]},{"raw_affiliation_string":"Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany","institution_ids":["https://openalex.org/I4210120009"]},{"raw_affiliation_string":"Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, 70376, Stuttgart, Germany","institution_ids":["https://openalex.org/I4210120009"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053621010","display_name":"Oliver Kohlbacher","orcid":"https://orcid.org/0000-0003-1739-4598","observed_orcids":["https://orcid.org/0000-0003-1739-4598"]},"institutions":[{"id":"https://openalex.org/I4210112458","display_name":"Max Planck Institute for Developmental Biology","ror":"https://ror.org/022jc0g24","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210112458"]},{"id":"https://openalex.org/I4387153155","display_name":"Quantitative Biology Center","ror":"https://ror.org/00v34f693","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4387153155","https://openalex.org/I8087733"]},{"id":"https://openalex.org/I8087733","display_name":"University of T\u00fcbingen","ror":"https://ror.org/03a1kwz48","country_code":"DE","type":"education","lineage":["https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Oliver Kohlbacher","raw_affiliation_strings":["Applied Bioinformatics, Dept. of Computer Science, 72076 T\u00fcbingen, Germany","Biomolecular Interactions, Max Planck Institute for Developmental Biology, 72076 T\u00fcbingen, Germany","Center for Bioinformatics, University of T\u00fcbingen, 72076, T\u00fcbingen, Germany","Faculty of Medicine, University of T\u00fcbingen, 72076 T\u00fcbingen, Germany","Quantitative Biology Center, 72076 T\u00fcbingen, Germany","pplied Bioinformatics, Department of Computer Science, 72076, T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Applied Bioinformatics, Dept. of Computer Science, 72076 T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]},{"raw_affiliation_string":"Biomolecular Interactions, Max Planck Institute for Developmental Biology, 72076 T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I4210112458"]},{"raw_affiliation_string":"Center for Bioinformatics, University of T\u00fcbingen, 72076, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]},{"raw_affiliation_string":"Faculty of Medicine, University of T\u00fcbingen, 72076 T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]},{"raw_affiliation_string":"Quantitative Biology Center, 72076 T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I4387153155"]},{"raw_affiliation_string":"pplied Bioinformatics, Department of Computer Science, 72076, T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I8087733"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022191527","display_name":"Debora S. Marks","orcid":"https://orcid.org/0000-0001-9388-2281","observed_orcids":["https://orcid.org/0000-0001-9388-2281"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Debora S. Marks","raw_affiliation_strings":["Department of Systems Biology, Harvard Medical School, Boston, 02115, Massachusetts, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Systems Biology, Harvard Medical School, Boston, 02115, Massachusetts, USA","institution_ids":["https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5022191527","https://openalex.org/A5053621010"],"corresponding_institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210112458","https://openalex.org/I4387153155","https://openalex.org/I8087733"],"apc_list":{"value":5290,"currency":"USD","value_usd":5290},"apc_paid":{"value":5290,"currency":"USD","value_usd":5290},"fwci":6.978,"has_fulltext":true,"cited_by_count":150,"citation_normalized_percentile":{"value":0.98670746,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"9","issue":"1","first_page":"117","last_page":"117"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.9315999746322632,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.9315999746322632,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.04390000179409981,"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":0.01600000075995922,"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/genetic-variation","display_name":"genetic variation","score":0.8849999904632568},{"id":"https://openalex.org/keywords/therapeutic-target","display_name":"therapeutic target","score":0.906000018119812},{"id":"https://openalex.org/keywords/functional-variants","display_name":"functional variants","score":0.7390000224113464},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.722000002861023},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.7960000038146973},{"id":"https://openalex.org/keywords/pharmacogenomics","display_name":"pharmacogenomics","score":0.8349999785423279},{"id":"https://openalex.org/keywords/drug-efficacy","display_name":"drug efficacy","score":0.4790000021457672},{"id":"https://openalex.org/keywords/adverse-drug-reactions","display_name":"adverse drug reactions","score":0.8849999904632568},{"id":"https://openalex.org/keywords/anticancer-agents","display_name":"anticancer agents","score":0.925000011920929}],"concepts":[{"id":"https://openalex.org/C2780035454","wikidata":"https://www.wikidata.org/wiki/Q8386","display_name":"Drug","level":2,"score":0.6027657985687256},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.5796318650245667},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.5471330285072327},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5231407880783081},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5214956998825073},{"id":"https://openalex.org/C40583040","wikidata":"https://www.wikidata.org/wiki/Q1502105","display_name":"Human genetic variation","level":5,"score":0.4911656081676483},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4882059395313263},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4816931188106537},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4652783274650574},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4644496440887451},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.4557778835296631},{"id":"https://openalex.org/C55775858","wikidata":"https://www.wikidata.org/wiki/Q1152227","display_name":"Pharmacogenetics","level":4,"score":0.4525175094604492},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4511786699295044},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.43936556577682495},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4122338891029358},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.37912940979003906},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.36997705698013306},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.22646141052246094},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.19570589065551758},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.17386412620544434},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000071184","descriptor_name":"Pharmacogenomic Variants","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059645","descriptor_name":"Mutation Rate","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D064420","descriptor_name":"Drug-Related Side Effects and Adverse Reactions","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064420","descriptor_name":"Drug-Related Side Effects and Adverse Reactions","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false}],"locations_count":12,"locations":[{"id":"doi:10.1186/s13073-017-0502-5","doi":"https://doi.org/10.1186/s13073-017-0502-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13073-017-0502-5","pdf_url":"https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-017-0502-5","source":{"id":"https://openalex.org/S149201819","display_name":"Genome Medicine","issn_l":"1756-994X","issn":["1756-994X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"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":"Genome Medicine","raw_type":"journal-article"},{"id":"doi:10.1101/147108","doi":"https://doi.org/10.1101/147108","is_oa":true,"landing_page_url":"https://doi.org/10.1101/147108","pdf_url":"https://www.biorxiv.org/content/biorxiv/early/2017/06/07/147108.full.pdf","source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},{"id":"pmh:oai:europepmc.org:4664711","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5740940","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,"listed_in":[],"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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:5740940","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5740940","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":"Genome Med","raw_type":"Text"},{"id":"pmid:29273096","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29273096","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":"Genome medicine","raw_type":"Journal Article"},{"id":"pmh:oai:arXiv.org:1706.08238","doi":null,"is_oa":true,"landing_page_url":"http://arxiv.org/abs/1706.08238","pdf_url":"https://arxiv.org/pdf/1706.08238","source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":"2331-8422","issn":["2331-8422"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"text"},{"id":"mag:2963314926","doi":null,"is_oa":true,"landing_page_url":"https://arxiv.org/pdf/1706.08238","pdf_url":null,"source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":"2331-8422","issn":["2331-8422"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"arXiv (Cornell University)","raw_type":null},{"id":"pmh:oai:dash.harvard.edu:1/34868919","doi":null,"is_oa":true,"landing_page_url":"http://nrs.harvard.edu/urn-3:HUL.InstRepos:34868919","pdf_url":null,"source":{"id":"https://openalex.org/S4306401540","display_name":"Digital Access to Scholarship at Harvard (DASH) (Harvard University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I136199984","host_organization_name":"Harvard University","host_organization_lineage":["https://openalex.org/I136199984"],"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"},{"id":"pmh:oai:doaj.org/article:a7d1e09ebf2f48a8a49f4516be3e97d0","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/a7d1e09ebf2f48a8a49f4516be3e97d0","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)","raw_type":"article"},{"id":"doi:10.48550/arxiv.1706.08238","doi":"https://doi.org/10.48550/arxiv.1706.08238","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.1706.08238","pdf_url":null,"source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":"2331-8422","issn":["2331-8422"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Preprint"},{"id":"doi:10.6084/m9.figshare.c.3961611","doi":"https://doi.org/10.6084/m9.figshare.c.3961611","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.3961611","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Collection"},{"id":"doi:10.6084/m9.figshare.c.3961611.v1","doi":"https://doi.org/10.6084/m9.figshare.c.3961611.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.3961611.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Collection"}],"best_oa_location":{"id":"doi:10.1186/s13073-017-0502-5","doi":"https://doi.org/10.1186/s13073-017-0502-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13073-017-0502-5","pdf_url":"https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-017-0502-5","source":{"id":"https://openalex.org/S149201819","display_name":"Genome Medicine","issn_l":"1756-994X","issn":["1756-994X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"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":"Genome Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2831393367","display_name":"Ubiquitous Pharmacogenomics (U-PGx): Making actionable pharmacogenomic data and effective treatment optimization accessible to every European citizen","funder_award_id":"668353","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G434337789","display_name":null,"funder_award_id":"HORIZON2020","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G6062937247","display_name":null,"funder_award_id":"668353","funder_id":"https://openalex.org/F4320335254","funder_display_name":"Horizon 2020"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320320869","display_name":"Robert Bosch Stiftung","ror":"https://ror.org/012kqkf58"},{"id":"https://openalex.org/F4320335254","display_name":"Horizon 2020","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2951885137.pdf","grobid_xml":"https://content.openalex.org/works/W2951885137.grobid-xml"},"referenced_works_count":95,"referenced_works":["https://openalex.org/W71547456","https://openalex.org/W1222545374","https://openalex.org/W1491283734","https://openalex.org/W1491779959","https://openalex.org/W1539310683","https://openalex.org/W1565457160","https://openalex.org/W1592810700","https://openalex.org/W1800678382","https://openalex.org/W1835740130","https://openalex.org/W1853923955","https://openalex.org/W1880673145","https://openalex.org/W1896195310","https://openalex.org/W1968983028","https://openalex.org/W1971443047","https://openalex.org/W1976065442","https://openalex.org/W1976618561","https://openalex.org/W1979046034","https://openalex.org/W1982516282","https://openalex.org/W1990615874","https://openalex.org/W1994345832","https://openalex.org/W2010427019","https://openalex.org/W2012747935","https://openalex.org/W2015536184","https://openalex.org/W2017818880","https://openalex.org/W2018518196","https://openalex.org/W2038492487","https://openalex.org/W2043462668","https://openalex.org/W2044422899","https://openalex.org/W2047537378","https://openalex.org/W2055457865","https://openalex.org/W2059145105","https://openalex.org/W2059300459","https://openalex.org/W2060588922","https://openalex.org/W2061042699","https://openalex.org/W2061939373","https://openalex.org/W2063280109","https://openalex.org/W2069458148","https://openalex.org/W2069677629","https://openalex.org/W2079756400","https://openalex.org/W2080813654","https://openalex.org/W2081397245","https://openalex.org/W2082426444","https://openalex.org/W2086632167","https://openalex.org/W2088367525","https://openalex.org/W2089157781","https://openalex.org/W2090663229","https://openalex.org/W2093252196","https://openalex.org/W2102461176","https://openalex.org/W2104477830","https://openalex.org/W2104549677","https://openalex.org/W2104689123","https://openalex.org/W2110547495","https://openalex.org/W2111134372","https://openalex.org/W2114651342","https://openalex.org/W2116251480","https://openalex.org/W2118147999","https://openalex.org/W2120032462","https://openalex.org/W2122675007","https://openalex.org/W2124575784","https://openalex.org/W2128043538","https://openalex.org/W2132629607","https://openalex.org/W2136219284","https://openalex.org/W2143238378","https://openalex.org/W2143602768","https://openalex.org/W2149385995","https://openalex.org/W2158230102","https://openalex.org/W2160995259","https://openalex.org/W2162785195","https://openalex.org/W2170566133","https://openalex.org/W2181523240","https://openalex.org/W2217029310","https://openalex.org/W2233494104","https://openalex.org/W2245592118","https://openalex.org/W2256016639","https://openalex.org/W2262742005","https://openalex.org/W2314414714","https://openalex.org/W2341227859","https://openalex.org/W2342249984","https://openalex.org/W2402900764","https://openalex.org/W2404612410","https://openalex.org/W2461427403","https://openalex.org/W2510355765","https://openalex.org/W2522526385","https://openalex.org/W2530263659","https://openalex.org/W2535554156","https://openalex.org/W2558217333","https://openalex.org/W2560428869","https://openalex.org/W2562052809","https://openalex.org/W2563534429","https://openalex.org/W2563786685","https://openalex.org/W2571852295","https://openalex.org/W2588108371","https://openalex.org/W3102341076","https://openalex.org/W4239708169","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W4237780920","https://openalex.org/W2341227859","https://openalex.org/W2325211104","https://openalex.org/W2804079128","https://openalex.org/W4224214416","https://openalex.org/W2038176250","https://openalex.org/W2909133033","https://openalex.org/W4281695118","https://openalex.org/W4390665275","https://openalex.org/W7042634392"],"abstract_inverted_index":{"BACKGROUND:":[0],"Variability":[1],"in":[2,10,19,32,61,85,88,106,122,158,208,212,225],"drug":[3,33,68,146,160,237],"efficacy":[4],"and":[5,115,135,203],"adverse":[6],"effects":[7,224],"are":[8,109,200,215],"observed":[9,121,207],"clinical":[11,123,209],"practice.":[12],"While":[13],"the":[14,27,46,56,73,89,150,181,186],"extent":[15],"of":[16,29,55,58,75,144,152],"genetic":[17,30,104],"variability":[18],"classic":[20],"pharmacokinetic":[21],"genes":[22,108],"is":[23,35],"rather":[24],"well":[25,94],"understood,":[26],"role":[28],"variation":[31],"targets":[34,87,147,161],"typically":[36],"less":[37],"studied.":[38],"METHODS:":[39],"Based":[40],"on":[41],"60,706":[42],"human":[43],"exomes":[44],"from":[45],"ExAC":[47,91],"dataset,":[48],"we":[49,126],"performed":[50],"an":[51],"in-depth":[52],"computational":[53],"analysis":[54,143],"prevalence":[57],"functional":[59,83,223],"variants":[60,84,105,157,177,199,233],"806":[62],"drug-related":[63,107],"genes,":[64],"including":[65],"628":[66],"known":[67],"targets.":[69],"We":[70,100],"further":[71],"computed":[72],"likelihood":[74],"1236":[76],"FDA-approved":[77],"drugs":[78,134],"to":[79,138,167,188,217],"be":[80,120],"affected":[81],"by":[82],"their":[86],"whole":[90],"population":[92],"as":[93,95],"different":[96],"geographic":[97,139],"sub-populations.":[98],"RESULTS:":[99],"find":[101],"that":[102,128,149,169,195],"most":[103],"very":[110,201],"rare":[111,202],"(f":[112],"<":[113],"0.1%)":[114],"thus":[116,204],"will":[117],"likely":[118,205,216],"not":[119,170,206],"trials.":[124],"Furthermore,":[125],"show":[127],"patient":[129,154],"risk":[130],"varies":[131],"for":[132,228],"many":[133,198],"with":[136,221],"respect":[137],"ancestry.":[140],"A":[141],"focused":[142],"oncological":[145,159],"indicates":[148,194],"probability":[151],"a":[153,219,226],"carrying":[155],"germline":[156,176],"is,":[162],"at":[163],"44%,":[164],"high":[165],"enough":[166],"suggest":[168],"only":[171],"somatic":[172],"alterations":[173],"but":[174],"also":[175],"carried":[178],"over":[179],"into":[180],"tumor":[182],"genome":[183],"could":[184,234],"affect":[185],"response":[187],"antineoplastic":[189],"agents.":[190],"CONCLUSIONS:":[191],"This":[192],"study":[193],"even":[196],"though":[197],"trials,":[210],"four":[211],"five":[213],"patients":[214],"carry":[218],"variant":[220],"possibly":[222],"target":[227],"commonly":[229],"prescribed":[230],"drugs.":[231],"Such":[232],"potentially":[235],"alter":[236],"efficacy.":[238]},"counts_by_year":[{"year":2026,"cited_by_count":11},{"year":2025,"cited_by_count":24},{"year":2024,"cited_by_count":21},{"year":2023,"cited_by_count":21},{"year":2022,"cited_by_count":17},{"year":2021,"cited_by_count":20},{"year":2020,"cited_by_count":13},{"year":2019,"cited_by_count":16},{"year":2018,"cited_by_count":7}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2019-06-27T00:00:00"}
