{"id":"https://openalex.org/W3173597972","doi":"https://doi.org/10.1096/fasebj.2019.33.1_supplement.lb66","title":"CYP2C9 and CYP2C19 : Massively Parallel Characterization of the Function of Genomic Missense Variants","display_name":"CYP2C9 and CYP2C19 : Massively Parallel Characterization of the Function of Genomic Missense Variants","publication_year":2019,"publication_date":"2019-04-01","ids":{"openalex":"https://openalex.org/W3173597972","doi":"https://doi.org/10.1096/fasebj.2019.33.1_supplement.lb66","mag":"3173597972"},"language":"en","primary_location":{"id":"doi:10.1096/fasebj.2019.33.1_supplement.lb66","doi":"https://doi.org/10.1096/fasebj.2019.33.1_supplement.lb66","is_oa":false,"landing_page_url":"https://doi.org/10.1096/fasebj.2019.33.1_supplement.lb66","pdf_url":null,"source":{"id":"https://openalex.org/S25293849","display_name":"The FASEB Journal","issn_l":"0892-6638","issn":["0892-6638","1530-6860"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The FASEB Journal","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Lingxin Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lingxin Zhang","raw_affiliation_strings":["Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016663287","display_name":"Vivekananda Sarangi","orcid":"https://orcid.org/0000-0002-3070-8582","observed_orcids":["https://orcid.org/0000-0002-3070-8582"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vivekananda Sarangi","raw_affiliation_strings":["Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086293207","display_name":"Irene Moon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Irene Moon","raw_affiliation_strings":["Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086862244","display_name":"Sandhya Devarajan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sandhya Devarajan","raw_affiliation_strings":["Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027416118","display_name":"Joel M. Reid","orcid":"https://orcid.org/0000-0003-2872-3123","observed_orcids":["https://orcid.org/0000-0003-2872-3123"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joel M. Reid","raw_affiliation_strings":["Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069578729","display_name":"Liewei Wang","orcid":"https://orcid.org/0000-0003-3818-8531","observed_orcids":["https://orcid.org/0000-0003-3818-8531"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Liewei Wang","raw_affiliation_strings":["Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5056312367","display_name":"Richard M. Weinshilboum","orcid":"https://orcid.org/0000-0002-4911-7985","observed_orcids":["https://orcid.org/0000-0002-4911-7985"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Weinshilboum","raw_affiliation_strings":["Mayo Clinic, Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":{"value":3740,"currency":"USD","value_usd":3740},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.30524631,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"33","issue":"S1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.9976000189781189,"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":0.9976000189781189,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0007999999797903001,"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":0.00039999998989515007,"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/cyp2c9","display_name":"CYP2C9","score":0.996999979019165},{"id":"https://openalex.org/keywords/cyp2c19","display_name":"CYP2C19","score":1.0},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9259999990463257},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.8640000224113464},{"id":"https://openalex.org/keywords/deep-mutational-scanning","display_name":"deep mutational scanning","score":0.9589999914169312},{"id":"https://openalex.org/keywords/pharmacogenomics","display_name":"pharmacogenomics","score":0.621999979019165},{"id":"https://openalex.org/keywords/drug-metabolism","display_name":"drug metabolism","score":0.6029999852180481},{"id":"https://openalex.org/keywords/protein-levels","display_name":"protein abundance","score":0.6639999747276306},{"id":"https://openalex.org/keywords/fluorescence-activated-cell-sorting","display_name":"fluorescence-activated cell sorting","score":0.8270000219345093},{"id":"https://openalex.org/keywords/drug-response-variability","display_name":"drug response variability","score":0.6340000033378601},{"id":"https://openalex.org/keywords/polyphen","display_name":"PolyPhen","score":0.41200000047683716},{"id":"https://openalex.org/keywords/sift","display_name":"SIFT","score":0.9330000281333923},{"id":"https://openalex.org/keywords/variant-calling","display_name":"variant calling","score":0.3019999861717224},{"id":"https://openalex.org/keywords/cytochrome-p450","display_name":"cytochrome P450","score":0.7689999938011169}],"concepts":[{"id":"https://openalex.org/C2780530800","wikidata":"https://www.wikidata.org/wiki/Q7072921","display_name":"ORFS","level":5,"score":0.7766760587692261},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7542437314987183},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7219036817550659},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7207425236701965},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.43169671297073364},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4300561845302582},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34786349534988403},{"id":"https://openalex.org/C47289529","wikidata":"https://www.wikidata.org/wiki/Q908550","display_name":"Open reading frame","level":4,"score":0.3234153985977173},{"id":"https://openalex.org/C167625842","wikidata":"https://www.wikidata.org/wiki/Q899763","display_name":"Peptide sequence","level":3,"score":0.09161952137947083}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1096/fasebj.2019.33.1_supplement.lb66","doi":"https://doi.org/10.1096/fasebj.2019.33.1_supplement.lb66","is_oa":false,"landing_page_url":"https://doi.org/10.1096/fasebj.2019.33.1_supplement.lb66","pdf_url":null,"source":{"id":"https://openalex.org/S25293849","display_name":"The FASEB Journal","issn_l":"0892-6638","issn":["0892-6638","1530-6860"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The FASEB Journal","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.7246000170707703,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G4011146686","display_name":"Pharmacogenetics of Phase II Drug Metabolizing Enzymes","funder_award_id":"U19GM061388","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G5373854445","display_name":"Inherited Variations In Drug Metabolizing Enzymes","funder_award_id":"R01GM028157","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G8102141739","display_name":"Pharmacogenomic regulation of CYP transcription by TSPYL genes","funder_award_id":"R01GM125633","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000914747","display_name":"Training Grant in Clinical Pharmacology","funder_award_id":"T32GM008685","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320333659","display_name":"Center for Individualized Medicine, Mayo Clinic","ror":"https://ror.org/03zzw1w08"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3003728310","https://openalex.org/W2911683809","https://openalex.org/W7204647752","https://openalex.org/W4389025849","https://openalex.org/W4206419701","https://openalex.org/W3201099110","https://openalex.org/W3135532511","https://openalex.org/W7128045778","https://openalex.org/W4410828072","https://openalex.org/W4250181400"],"abstract_inverted_index":{"Single":[0],"nucleotide":[1],"variants":[2,28,40,56,88,131,154,229,247,257,295,326,367],"in":[3,17,29,60,68,89,112,132,218,231,258,374,425],"the":[4,22,36,52,127,133,183,210,226,259,269,276,302,319,323,330,341,361,398,409],"open":[5],"reading":[6],"frames":[7],"(ORFs)":[8],"of":[9,14,21,26,38,55,57,85,129,135,142,165,215,225,228,239,286,291,301,332,343,364],"pharmacogenes":[10,63],"are":[11],"important":[12,62,251],"causes":[13],"interindividual":[15],"variability":[16],"drug":[18,314],"response.":[19],"Because":[20],"very":[23],"large":[24],"number":[25],"missense":[27,87,130,256,294],"ORFs,":[30],"it":[31,80],"is":[32,74,356,407,415],"difficult":[33],"to":[34,41,82,106,125,148,161,181,236],"link":[35],"genotypes":[37],"these":[39,249],"their":[42],"phenotypes":[43],"using":[44],"\u201cone":[45],"at":[46,209],"a":[47,65,75,90,104,306],"time\u201d":[48],"expression":[49],"systems.":[50],"Therefore,":[51],"functional":[53,193],"characterization":[54],"unknown":[58],"significance":[59],"clinically":[61],"remains":[64],"major":[66],"challenge":[67],"pharmacogenomics.":[69,375],"Deep":[70],"mutational":[71],"scanning":[72],"(DMS)":[73],"high\u2010throughput":[76,362],"technique":[77],"that":[78,264,284,308,354,368],"make":[79],"possible":[81],"analyze":[83,126],"hundreds":[84],"different":[86,156,163,204],"parallel":[91],"and":[92,137,144,152,176,261,274,289,339,349,396],"scalable":[93],"fashion.":[94],"Engineered":[95],"\u201clanding":[96],"pad\u201d":[97],"HEK":[98],"293T":[99],"cells":[100,202],"were":[101,146,159,171],"used":[102,160,179,235],"as":[103,347],"platform":[105],"integrate":[107,182],"pooled":[108],"variant":[109,114,169,334],"libraries,":[110],"resulting":[111],"one":[113,189],"per":[115,190],"cell":[116],"for":[117,248,313,322,360,402],"further":[118],"assessment.":[119],"We":[120,282],"adapted":[121],"this":[122,422],"DMS":[123,320,355],"system":[124],"function":[128],"ORFs":[134,141,263],"CYP2C9":[136,143,260,288],"CYP2C19":[138,145,262,293],".":[139,429],"The":[140,426],"fused":[147],"green":[149],"fluorescent":[150],"protein,":[151],"individual":[153,333],"with":[155,196,329,340,421],"fluorescence":[157,207],"intensities":[158],"indicate":[162],"levels":[164,238],"protein":[166,240,304],"expression.":[167,241],"Pooled":[168],"libraries":[170,184],"generated":[172],"by":[173,206,222,268,275,318,336,381,397],"nicking":[174],"mutagenesis,":[175],"we":[177,253],"then":[178],"recombinase":[180],"into":[185,203],"landing":[186],"pad":[187],"cells,":[188],"cell.":[191],"Multiplexed":[192],"selection":[194],"performed":[195],"Fluorescence":[197],"Activated":[198],"Cell":[199],"Sorting":[200],"separated":[201],"bins":[205],"readout":[208],"single\u2013cell":[211],"level.":[212],"Amplicon":[213],"sequencing":[214],"DNA":[216],"collected":[217],"each":[219,232],"bin,":[220,233],"followed":[221],"computational":[223,344],"analysis":[224],"frequency":[227],"appearing":[230],"was":[234,327],"determine":[237],"To":[242],"identify":[243],"potentially":[244],"severely":[245,324],"damaging":[246,325,365],"two":[250],"pharmacogenes,":[252],"studied":[254],"243":[255],"had":[265],"been":[266],"identified":[267],"Exome":[270],"Aggregation":[271],"Consortium":[272],"Project":[273],"Mayo":[277,399],"Clinic":[278,400],"RIGHT":[279],"1K":[280],"Study.":[281],"found":[283],"13":[285],"115":[287],"25":[290],"128":[292],"displayed":[296],"less":[297],"than":[298],"approximately":[299],"25%":[300],"wildtype":[303],"expression,":[305],"level":[307],"may":[309],"have":[310,370],"clinical":[311,372],"relevance":[312],"metabolism.":[315],"Variant":[316],"calling":[317],"method":[321,359],"compared":[328],"results":[331,352],"assay":[335],"western":[337],"blot":[338],"predictions":[342],"algorithms":[345],"such":[346],"Polyphen":[348],"SIFT.":[350],"Our":[351],"suggest":[353],"an":[357],"efficient":[358],"identification":[363],"ORF":[366],"might":[369],"potential":[371],"application":[373],"Support":[376],"or":[377],"Funding":[378],"Information":[379],"Funded":[380],"NIH":[382],"grant":[383],"U19":[384],"GM61388":[385],"(The":[386],"Pharmacogenomics":[387],"Research":[388],"Network),":[389],"R01":[390,392],"GM28157,":[391],"GM125633,":[393],"T32":[394],"GM08685":[395],"Center":[401],"Individualized":[403],"Medicine":[404],"This":[405],"abstract":[406,423],"from":[408],"Experimental":[410],"Biology":[411],"2019":[412],"Meeting.":[413],"There":[414],"no":[416],"full":[417],"text":[418],"article":[419],"associated":[420],"published":[424],"FASEB":[427],"Journal":[428]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2021-07-05T00:00:00"}
