D059014ProceduresE05.393.760.319281000.923739High-Throughput Nucleotide Sequencingcmhprofilesont:personsuffixperson suffixFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentDivisionvivo:hrJobTitleHR job titleInformation Resourcevivo:orcidIdORCID idPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonMD, PhDTomiPastinenTomi Pastinen0.000000000000000.00000000000000113Pastinen, TomiDirector, Center for Pediatric Genomic Medicine 2Associate Professor1ProfessorPhD, CGCEmilyFarrowEmily G. Farrow0.000000000000000.00000000000000124Farrow, EmilyDirector of Lab Operations2.758150.032492828research area of0.9571090.10632857subject area forPathology and Laboratory MedicinePediatricsResearchClinicalPhD, MSAndreaGaedigkAndrea Gaedigk39.08346750000000-94.577112900000001Gaedigk, Andrea0000-0001-6968-1893Director, Pharmacogenetics Core LaboratoryChildren's Mercy Kansas CityMD, PhD, FCAPMidhatFarooqiMidhat Farooqi0.000000000000000.00000000000000161Farooqi, Midhat0000-0002-5238-1349Director, Molecular Oncology, Center for Pediatric Genomic Medicine33080408Smith SC, Farooqi MS, Gener MA, Ginn K, Joyce JM, Bendorf TM, Cooley LDThe Journal of molecular diagnostics : JMDSmith SC, Farooqi MS, Gener MA, Ginn K, Joyce JM, Bendorf TM, Cooley LD. Clinical Validation of Somatic Mutation Detection by the OncoScan CNV Plus Assay. J Mol Diagn. 2021 01; 23(1):29-37.J Mol Diagn2020-10-17T00:00:002020Clinical Validation of Somatic Mutation Detection by the OncoScan CNV Plus Assay.33631350Lansdon LA, Cadieux-Dion M, Yoo B, Miller N, Cohen ASA, Zellmer L, Zhang L, Farrow EG, Thiffault I, Repnikova EA, Cooley LD, Alaimo JT, Porath B, Herriges JC, Saunders CJ, Farooqi MSThe Journal of molecular diagnostics : JMDLansdon LA, Cadieux-Dion M, Yoo B, Miller N, Cohen ASA, Zellmer L, Zhang L, Farrow EG, Thiffault I, Repnikova EA, Cooley LD, Alaimo JT, Porath B, Herriges JC, Saunders CJ, Farooqi MS. Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing. J Mol Diagn. 2021 05; 23(5):651-657.J Mol Diagn2021-02-22T00:00:002021Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.33631352Turner AJ, Aggarwal P, Boone EC, Haidar CE, Relling MV, Derezinski AD, Broeckel U, Gaedigk AThe Journal of molecular diagnostics : JMDTurner AJ, Aggarwal P, Boone EC, Haidar CE, Relling MV, Derezinski AD, Broeckel U, Gaedigk A. Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization. J Mol Diagn. 2021 05; 23(5):577-588.J Mol Diagn2021-02-22T00:00:002021Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.35134542Gaedigk A, Boone EC, Scherer SE, Lee SB, Numanagic I, Sahinalp C, Smith JD, McGee S, Radhakrishnan A, Qin X, Wang WY, Farrow EG, Gonzaludo N, Halpern AL, Nickerson DA, Miller NA, Pratt VM, Kalman LVThe Journal of molecular diagnostics : JMDGaedigk A, Boone EC, Scherer SE, Lee SB, Numanagic I, Sahinalp C, Smith JD, McGee S, Radhakrishnan A, Qin X, Wang WY, Farrow EG, Gonzaludo N, Halpern AL, Nickerson DA, Miller NA, Pratt VM, Kalman LV. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. J Mol Diagn. 2022 04; 24(4):337-350.J Mol Diagn2022-02-05T00:00:002022CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.37548286Farrow E, Jay A, Means J, Younger S, Biswell R, Koseva B, Thiffault I, Pastinen T, Pappas K, Toriello HAmerican journal of medical genetics. Part AFarrow E, Jay A, Means J, Younger S, Biswell R, Koseva B, Thiffault I, Pastinen T, Pappas K, Toriello H. Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq. Am J Med Genet A. 2023 12; 191(12):2908-2912.Am J Med Genet A2023-08-07T00:00:002023Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.PhDBrookeFridleyBrooke Fridley0.000000000000000.00000000000000222Fridley, BrookeDirector, Biostatistics and Epidemiology Coretrue1Director, Biostatistics and Epidemiology CoreDirector, Biostatistics and Epidemiology Coretrue1Director, Molecular Oncology, Center for Pediatric Genomic MedicineDirector, Molecular Oncology, Center for Pediatric Genomic Medicinetrue1Director, Pharmacogenetics Core LaboratoryDirector, Pharmacogenetics Core Laboratorytrue1Director, Center for Pediatric Genomic Medicine Director, Center for Pediatric Genomic Medicine true1Director of Lab OperationsDirector of Lab Operations