{"id":"https://openalex.org/W7129222301","doi":"https://doi.org/10.64898/2026.02.14.705357","title":"A novel pharmacogenetic testing panel for CYP2C19 genetic polymorphisms","display_name":"A novel pharmacogenetic testing panel for CYP2C19 genetic polymorphisms","publication_year":2026,"publication_date":"2026-02-17","ids":{"openalex":"https://openalex.org/W7129222301","doi":"https://doi.org/10.64898/2026.02.14.705357"},"language":"en","primary_location":{"id":"doi:10.64898/2026.02.14.705357","doi":"https://doi.org/10.64898/2026.02.14.705357","is_oa":false,"landing_page_url":"https://doi.org/10.64898/2026.02.14.705357","pdf_url":null,"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"},"volume":null,"type":"preprint","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":"https://openalex.org/A5079735061","display_name":"Miracle Nmesomachi Enwere","orcid":"https://orcid.org/0000-0002-0567-6195","observed_orcids":["https://orcid.org/0000-0002-0567-6195"]},"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":true,"raw_author_name":"Miracle Nmesomachi Enwere","raw_affiliation_strings":["Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089157193","display_name":"Rachelle Turiello","orcid":"https://orcid.org/0000-0001-5110-2304","observed_orcids":["https://orcid.org/0000-0001-5110-2304"]},"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":"Rachelle Turiello","raw_affiliation_strings":["Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5146847845","display_name":"James Harrison McElroy","orcid":null,"observed_orcids":[]},"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":"James Harrison McElroy","raw_affiliation_strings":["Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5146814040","display_name":"Elizabeth Medearis","orcid":null,"observed_orcids":[]},"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":"Elizabeth Medearis","raw_affiliation_strings":["Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083897733","display_name":"Delaney Smith","orcid":"https://orcid.org/0000-0001-8367-880X","observed_orcids":["https://orcid.org/0000-0001-8367-880X"]},"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":"Delaney Smith","raw_affiliation_strings":["Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5137901084","display_name":"Niklas Laurell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I187531555","display_name":"Lund University","ror":"https://ror.org/012a77v79","country_code":"SE","type":"education","lineage":["https://openalex.org/I187531555"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"Niklas Laurell","raw_affiliation_strings":["Department of Biomedical Engineering, Lund University, Lund, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Lund University, Lund, Sweden","institution_ids":["https://openalex.org/I187531555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008556740","display_name":"Renna L. Nouwairi","orcid":"https://orcid.org/0000-0003-4013-3126","observed_orcids":["https://orcid.org/0000-0003-4013-3126"]},"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":"Renna Nouwairi","raw_affiliation_strings":["Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020995037","display_name":"Anita H. Clayton","orcid":"https://orcid.org/0000-0003-4372-0879","observed_orcids":["https://orcid.org/0000-0003-4372-0879"]},"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":"Anita H. Clayton","raw_affiliation_strings":["Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001108575","display_name":"Atmaram Yarlagadda","orcid":null,"observed_orcids":[]},"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":"Atmaram Yarlagadda","raw_affiliation_strings":["Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry and Neurobehavioral Sciences, School of Medicine, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069720676","display_name":"Jerome C. Foo","orcid":"https://orcid.org/0000-0003-1067-5725","observed_orcids":["https://orcid.org/0000-0003-1067-5725"]},"institutions":[{"id":"https://openalex.org/I154425047","display_name":"University of Alberta","ror":"https://ror.org/0160cpw27","country_code":"CA","type":"education","lineage":["https://openalex.org/I154425047"]},{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I4210105615","display_name":"Central Institute of Mental Health","ror":"https://ror.org/01hynnt93","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210105615"]},{"id":"https://openalex.org/I4387153978","display_name":"Medizinische Fakult\u00e4t Mannheim","ror":"https://ror.org/02m1z0a87","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387153978"]},{"id":"https://openalex.org/I4405270867","display_name":"Neuroscience and Mental Health Institute","ror":"https://ror.org/01f5cav29","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4405270867"]}],"countries":["CA","DE"],"is_corresponding":false,"raw_author_name":"Jerome C. Foo","raw_affiliation_strings":["Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany","Department of Psychiatry, Faculty of Medicine and Dentistry, College of Health Sciences, University of Alberta, Edmonton, AB, Canada","Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I4210105615","https://openalex.org/I4387153978"]},{"raw_affiliation_string":"Department of Psychiatry, Faculty of Medicine and Dentistry, College of Health Sciences, University of Alberta, Edmonton, AB, Canada","institution_ids":["https://openalex.org/I154425047"]},{"raw_affiliation_string":"Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada","institution_ids":["https://openalex.org/I154425047","https://openalex.org/I4405270867"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084729995","display_name":"Katherine Jean Aitchison","orcid":"https://orcid.org/0000-0002-1107-3024","observed_orcids":["https://orcid.org/0000-0002-1107-3024"]},"institutions":[{"id":"https://openalex.org/I154425047","display_name":"University of Alberta","ror":"https://ror.org/0160cpw27","country_code":"CA","type":"education","lineage":["https://openalex.org/I154425047"]},{"id":"https://openalex.org/I4405270867","display_name":"Neuroscience and Mental Health Institute","ror":"https://ror.org/01f5cav29","country_code":"CA","type":"facility","lineage":["https://openalex.org/I4405270867"]},{"id":"https://openalex.org/I7899908","display_name":"NOSM University","ror":"https://ror.org/05yb43k62","country_code":"CA","type":"education","lineage":["https://openalex.org/I7899908"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Katherine J. Aitchison","raw_affiliation_strings":["Department of Medical Genetics, Faculty of Medicine and Dentistry, College of Health Sciences, University of Alberta, Edmonton, AB, Canada","Department of Psychiatry, Faculty of Medicine and Dentistry, College of Health Sciences, University of Alberta, Edmonton, AB, Canada","Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada","Psychiatry Section, Division of Clinical Sciences, Northern Ontario School of Medicine, Thunder Bay, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Faculty of Medicine and Dentistry, College of Health Sciences, University of Alberta, Edmonton, AB, Canada","institution_ids":["https://openalex.org/I154425047"]},{"raw_affiliation_string":"Department of Psychiatry, Faculty of Medicine and Dentistry, College of Health Sciences, University of Alberta, Edmonton, AB, Canada","institution_ids":["https://openalex.org/I154425047"]},{"raw_affiliation_string":"Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada","institution_ids":["https://openalex.org/I154425047","https://openalex.org/I4405270867"]},{"raw_affiliation_string":"Psychiatry Section, Division of Clinical Sciences, Northern Ontario School of Medicine, Thunder Bay, ON, Canada","institution_ids":["https://openalex.org/I7899908"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081790927","display_name":"B. Jill Venton","orcid":"https://orcid.org/0000-0002-5096-9309","observed_orcids":["https://orcid.org/0000-0002-5096-9309"]},"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":"B. Jill Venton","raw_affiliation_strings":["Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5031563436","display_name":"James P. Landers","orcid":"https://orcid.org/0000-0002-9310-1796","observed_orcids":["https://orcid.org/0000-0002-9310-1796"]},"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":"James P. Landers","raw_affiliation_strings":["Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","Department of Mechanical Engineering, University of Virginia, Charlottesville, VA, USA","Department of Pathology, University of Virginia, Charlottesville, VA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Arts and Sciences, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]},{"raw_affiliation_string":"Department of Mechanical Engineering, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]},{"raw_affiliation_string":"Department of Pathology, University of Virginia, Charlottesville, VA, USA","institution_ids":["https://openalex.org/I51556381"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5079735061"],"corresponding_institution_ids":["https://openalex.org/I51556381"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"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":0.9994999766349792,"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":0.9994999766349792,"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":9.999999747378752e-05,"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/T11117","display_name":"Drug-Induced Adverse Reactions","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2736","display_name":"Pharmacology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cyp2c19","display_name":"CYP2C19","score":0.9959999918937683},{"id":"https://openalex.org/keywords/pharmacogenetics","display_name":"pharmacogenetics","score":0.8059999942779541},{"id":"https://openalex.org/keywords/genetic-polymorphism","display_name":"genetic polymorphism","score":0.8040000200271606},{"id":"https://openalex.org/keywords/multiplex-genotyping","display_name":"multiplex genotyping","score":0.9599999785423279},{"id":"https://openalex.org/keywords/diplotypes","display_name":"diplotypes","score":0.8130000233650208},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.7710000276565552},{"id":"https://openalex.org/keywords/cyp2c19-2","display_name":"CYP2C19*2","score":0.8659999966621399},{"id":"https://openalex.org/keywords/cyp2c19-3","display_name":"CYP2C19*3","score":0.9959999918937683},{"id":"https://openalex.org/keywords/cyp2c19-17","display_name":"CYP2C19*17","score":0.9990000128746033},{"id":"https://openalex.org/keywords/drug-metabolism","display_name":"drug metabolism","score":0.6370000243186951},{"id":"https://openalex.org/keywords/low-cost-genotyping","display_name":"cost-effective genotyping","score":0.6830000281333923}],"concepts":[{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.7110999822616577},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6535000205039978},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6306999921798706},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.621999979019165},{"id":"https://openalex.org/C170734499","wikidata":"https://www.wikidata.org/wiki/Q1152227","display_name":"Pharmacogenomics","level":2,"score":0.6121000051498413},{"id":"https://openalex.org/C2781188995","wikidata":"https://www.wikidata.org/wiki/Q6934982","display_name":"Multiplex","level":2,"score":0.5978000164031982},{"id":"https://openalex.org/C55775858","wikidata":"https://www.wikidata.org/wiki/Q1152227","display_name":"Pharmacogenetics","level":4,"score":0.5026999711990356},{"id":"https://openalex.org/C125009961","wikidata":"https://www.wikidata.org/wiki/Q2342248","display_name":"Pyrosequencing","level":3,"score":0.49869999289512634},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.4934000074863434},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4641999900341034},{"id":"https://openalex.org/C2777563447","wikidata":"https://www.wikidata.org/wiki/Q7243397","display_name":"Primer (cosmetics)","level":2,"score":0.4399999976158142},{"id":"https://openalex.org/C90583042","wikidata":"https://www.wikidata.org/wiki/Q1952456","display_name":"Multiplex polymerase chain reaction","level":4,"score":0.4327999949455261},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.421099990606308},{"id":"https://openalex.org/C17757408","wikidata":"https://www.wikidata.org/wiki/Q4135516","display_name":"genomic DNA","level":3,"score":0.3944000005722046},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.37130001187324524},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.35499998927116394},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.34360000491142273},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.33309999108314514},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.3280999958515167},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.3158000111579895},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.3075999915599823},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.29660001397132874},{"id":"https://openalex.org/C2780035454","wikidata":"https://www.wikidata.org/wiki/Q8386","display_name":"Drug","level":2,"score":0.29409998655319214},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.288100004196167},{"id":"https://openalex.org/C179786068","wikidata":"https://www.wikidata.org/wiki/Q16257937","display_name":"Molecular diagnostics","level":2,"score":0.2872999906539917},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.28630000352859497},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.2773999869823456},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.25839999318122864}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.64898/2026.02.14.705357","doi":"https://doi.org/10.64898/2026.02.14.705357","is_oa":false,"landing_page_url":"https://doi.org/10.64898/2026.02.14.705357","pdf_url":null,"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"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6489874399","display_name":"A Portable, Low-Cost, Pont-of-care Microfluidic System for Rapid Pharmacogenomic Screening of Patients with Major Depressive Disorder","funder_award_id":"1r01mh137467-01","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W67447014","https://openalex.org/W1550666015","https://openalex.org/W1926536102","https://openalex.org/W1994337442","https://openalex.org/W2010427019","https://openalex.org/W2018416628","https://openalex.org/W2018579100","https://openalex.org/W2055983308","https://openalex.org/W2070721758","https://openalex.org/W2074930372","https://openalex.org/W2081558811","https://openalex.org/W2129359631","https://openalex.org/W2131016694","https://openalex.org/W2131633795","https://openalex.org/W2288991238","https://openalex.org/W2585069996","https://openalex.org/W2765200941","https://openalex.org/W2789160819","https://openalex.org/W2790769596","https://openalex.org/W2805727844","https://openalex.org/W2916980619","https://openalex.org/W2982300669","https://openalex.org/W3002751811","https://openalex.org/W3007536699","https://openalex.org/W3175801695","https://openalex.org/W3214830960","https://openalex.org/W4210643740","https://openalex.org/W4225898992","https://openalex.org/W4313400394","https://openalex.org/W4320484278","https://openalex.org/W4362459384","https://openalex.org/W4362735831","https://openalex.org/W4380872499"],"related_works":["https://openalex.org/W2070262094","https://openalex.org/W6990489807","https://openalex.org/W2351966498","https://openalex.org/W4309364408","https://openalex.org/W28817471","https://openalex.org/W2131633795","https://openalex.org/W2005205053","https://openalex.org/W2193896210","https://openalex.org/W4281264117","https://openalex.org/W2361958484"],"abstract_inverted_index":{"Abstract":[0],"Specific":[1],"drug":[2,38,60],"metabolism":[3,39],"rates":[4,40],"are":[5],"defined":[6],"by":[7,138],"the":[8,11,133,139,171,178,203,216,227,247],"constituency":[9],"of":[10,21,31,126,153,205,226,229],"cytochrome":[12],"P450":[13],"(CYP)":[14],"genome,":[15],"including":[16,132],"polymorphic":[17],"changes":[18],"in":[19,36,49,88,128,164],"any":[20],"200+":[22],"CYP":[23],"genes.":[24],"An":[25],"example":[26],"is":[27,73],"CYP2C19,":[28],"where":[29],"associations":[30],"gene":[32],"polymorphisms":[33],"with":[34,120,191],"variability":[35],"certain":[37],"have":[41,85],"been":[42],"linked":[43],"to":[44,59,67,75,92,109,122],"inter-individual":[45],"and":[46,61,77,80,149,155,163,194,209,249],"inter-ethnic":[47],"differences":[48],"therapeutic":[50],"outcomes.":[51],"While":[52],"pharmacogenomic":[53],"screening":[54,110],"for":[55,141,187],"these":[56],"variants":[57,125,230],"prior":[58],"dosage":[62],"prescription":[63],"has":[64],"well-defined":[65],"links":[66],"better":[68],"treatment":[69],"outcomes,":[70],"current":[71],"implementation":[72],"limited":[74,86],"complex":[76],"costly":[78],"variant-probing":[79],"DNA":[81,208,213],"sequencing":[82],"protocols,":[83],"which":[84],"availability":[87],"clinical":[89,98],"laboratories,":[90],"leading":[91],"slow":[93],"turnaround":[94],"times,":[95],"impacting":[96],"effective":[97],"intervention.":[99],"Here":[100],"we":[101],"describe":[102],"a":[103,165,183,192,210],"novel,":[104],"cost-effective,":[105],"multiplex":[106,166],"genotyping":[107],"approach":[108],"CYP2C19":[111,124],"variants.":[112],"Fluorescence":[113],"nested":[114],"allele-specific":[115,240],"(FAS)":[116],"PCR":[117],"was":[118],"used":[119],"primers":[121],"detect":[123],"interest":[127],"specific":[129],"\u2018hot":[130],"spots\u2019,":[131],"Tier":[134],"1":[135],"haplotypes":[136],"identified":[137,159,202],"Association":[140],"Molecular":[142],"Pathology":[143],"(AMP):":[144],"CYP2C19*2":[145],",":[146,148],"*3":[147],"*17.":[150],"The":[151,198],"presence/absence":[152],"wild-type":[154],"mutant":[156],"alleles":[157],"were":[158],"independently":[160],"as":[161,168,182,234],"haplotypes,":[162],"reaction":[167],"diplotypes":[169],"representing":[170],"10":[172],"possible":[173],"genotype":[174,180],"combinations/profiles.":[175],"FAS-PCR":[176,199,217],"achieved":[177],"same":[179],"calls":[181],"pyrosequencing":[184],"protocol":[185,218],"optimized":[186],"validating":[188],"genotypes,":[189],"but":[190],"simpler":[193],"more":[195,236],"sensitive":[196],"interface.":[197],"method":[200],"correctly":[201],"genotypes":[204],"both":[206,246],"synthesized":[207],"human":[211],"genomic":[212],"standard.":[214],"Uniquely,":[215],"generates":[219],"patterns":[220],"using":[221],"one":[222],"fluorescently-labeled":[223],"primer":[224],"irrespective":[225],"number":[228],"targeted,":[231],"establishing":[232],"it":[233],"considerably":[235],"cost-effective":[237],"than":[238],"other":[239],"PCR-based":[241],"techniques":[242],"that":[243],"involve":[244],"labeling":[245],"forward":[248],"reverse":[250],"primers.":[251]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-02-18T00:00:00"}