Description:
CEPH/UTAH PEDIGREE 1362
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
SNP500 PANEL
INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
NA CUSTOM SERVICE PLATE 01
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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UTAH/MORMON
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Country of Origin
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USA
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Family Member
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14
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Relation to Proband
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paternal grandmother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Paternal Grandmother |
| Lee SB, Shin JY, Kwon NJ, Kim C, Seo JS., ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation. PLoS One17: 2022 |
| PubMed ID: 35901010 |
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| Barber TM, Bhatti AA, Elder PJ, Ball SP, Calvez R, Ramsden DB, Cuthbertson DJ, Pfeiffer AF, Burnett D, Weickert MO, AMY1 gene copy number correlates with glucose absorption and visceral fat volume, but not with insulin resistance The Journal of clinical endocrinology and metabolism17: 2020 |
| PubMed ID: 32697825 |
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| Botton MR, Yang Y, Scott ER, Desnick RJ, Scott SA, Phased Haplotype Resolution of the Genes11: 2020 |
| PubMed ID: 33198140 |
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| Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE, Haplotype-resolved diverse human genomes and integrated analysis of structural variation Science (New York, NY)372: 2020 |
| PubMed ID: 33632895 |
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| Fløyel T, Meyerovich K, Prause MC, Kaur S, Frørup C, Mortensen HB, Nielsen LB, Pociot F, Cardozo AK, Størling J, SKAP2, a Candidate Gene for Type 1 Diabetes, Regulates ß-Cell Apoptosis and Glycaemic Control in Newly Diagnosed Patients Diabetes372: 2020 |
| PubMed ID: 33203694 |
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| Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV, Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project The Journal of molecular diagnostics : JMD372: 2019 |
| PubMed ID: 31401124 |
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| Kamdem LK, Xi J, Clark BL, Gregory BJ, Kidwell KM, Storniolo AM, Stearns V, Hayes DF, Gersch CL, Rae JM, Henry NL, Hertz DL, Exemestane may be less detrimental than letrozole to bone health in women homozygous for the UGT2B17*2 gene deletion Breast cancer research and treatment372: 2019 |
| PubMed ID: 30747308 |
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| Lee SB, Wheeler MM, Thummel KE, Nickerson DA, Calling star alleles with Stargazer in 28 pharmacogenes with whole genome sequences Clinical pharmacology and therapeutics372: 2019 |
| PubMed ID: 31206625 |
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| Twesigomwe D, Wright GEB, Drögemöller BI, da Rocha J, Lombard Z, Hazelhurst S, A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on NPJ genomic medicine5:30 2019 |
| PubMed ID: 32789024 |
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| Giner-Delgado C, Villatoro S, Lerga-Jaso J, Gayà-Vidal M, Oliva M, Castellano D, Pantano L, Bitarello BD, Izquierdo D, Noguera I, Olalde I, Delprat A, Blancher A, Lalueza-Fox C, Esko T, O'Reilly PF, Andrés AM, Ferretti L, Puig M, Cáceres M, Evolutionary and functional impact of common polymorphic inversions in the human genome Nature communications10:4222 2018 |
| PubMed ID: 31530810 |
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| León-Mimila P, Villamil-Ramírez H, López-Contreras BE, Morán-Ramos S, Macias-Kauffer LR, Acuña-Alonzo V, Del Río-Navarro BE, Salmerón J, Velazquez-Cruz R, Villarreal-Molina T, Aguilar-Salinas CA, Canizales-Quinteros S, Low Salivary Amylase Gene ( Nutrients10:4222 2018 |
| PubMed ID: 30388780 |
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| Pérez-Núñez I, Karaky M, Fedetz M, Barrionuevo C, Izquierdo G, Matesanz F, Alcina A, Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression European journal of human genetics : EJHG27:1836-1844 2018 |
| PubMed ID: 31053784 |
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| Swart M, Stansberry WM, Pratt VM, Medeiros EB, Kiel PJ, Shen F, Schneider BP, Skaar TC, Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology The Journal of molecular diagnostics : JMD21:491-502 2018 |
| PubMed ID: 30794985 |
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| Numanagic I, Malikic S, Ford M, Qin X, Toji L, Radovich M, Skaar TC, Pratt VM, Berger B, Scherer S, Sahinalp SC, Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes Nature communications9:828 2017 |
| PubMed ID: 29483503 |
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| Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV., Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.18(1):109-23 2016 |
| PubMed ID: 26621101 |
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| Chen SM, Atchley DH, Murphy MA, Gurley BJ, Kamdem LK, Impact of UGT2B17 Gene Deletion on the Pharmacokinetics of 17-Hydroexemestane in Healthy Volunteers Journal of clinical pharmacology56:875-84 2015 |
| PubMed ID: 26608382 |
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| Fairbanks DJ, Fairbanks AD, Ogden TH, Parker GJ, Maughan PJ, NANOGP8: evolution of a human-specific retro-oncogene G3 (Bethesda, Md)2:1447-57 2012 |
| PubMed ID: 23173096 |
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| Ewing AD, Kazazian HH, High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes Genome research20:1262-70 2010 |
| PubMed ID: 20488934 |
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| Kiialainen A, Karlberg O, Ahlford A, Sigurdsson S, Lindblad-Toh K, Syvänen AC, Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery PloS one6:e16486 2010 |
| PubMed ID: 21347407 |
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| Londin ER, Keller MA, Maista C, Smith G, Mamounas LA, Zhang R, Madore SJ, Gwinn K, Corriveau RA.
, CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins.
Plos One5(10):e13443 2010 |
| PubMed ID: 20976178 |
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| Moreno-Estrada A, Aparicio-Prat E, Sikora M, Engelken J, Ramírez-Soriano A, Calafell F, Bosch E, African signatures of recent positive selection in human FOXI1 BMC evolutionary biology10:267 2010 |
| PubMed ID: 20809947 |
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| Tynan JA, Mahboubi P, Cagasan LL, van den Boom D, Ehrich M, Oeth P, Restriction enzyme-mediated enhanced detection of circulating cell-free fetal DNA in maternal plasma The Journal of molecular diagnostics : JMD13:382-9 2010 |
| PubMed ID: 21704271 |
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| Xue Y, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG, Yngvadottir B, Nica AC, Woodwark C, Chen Y, Conrad DF, Ayub Q, Mehdi SQ, Li P, Tyler-Smith C, Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation Genetics183:1065-77 2009 |
| PubMed ID: 19737746 |
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| Riethman H, Human subtelomeric copy number variations Cytogenetic and genome research123:244-52 2008 |
| PubMed ID: 19287161 |
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| Bergen AW, Baccarelli A, McDaniel TK, Kuhn K, Pfeiffer R, Kakol J, Bender P, Jacobs K, Packer B, Chanock SJ, Yeager M, Cis sequence effects on gene expression BMC genomics8:296 2007 |
| PubMed ID: 17727713 |
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| Boyko AR, Williamson SH, Indap AR, Degenhardt JD, Hernandez RD, Lohmueller KE, Adams MD, Schmidt S, Sninsky JJ, Sunyaev SR, White TJ, Nielsen R, Clark AG, Bustamante CD, Assessing the evolutionary impact of amino acid mutations in the human genome PLoS genetics4:e1000083 2007 |
| PubMed ID: 18516229 |
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| Crawford DC, Nord AS, Badzioch MD, Ranchalis J, McKinstry LA, Ahearn M, Bertucci C, Shephard C, Wong M, Rieder MJ, Schellenberg GD, Nickerson DA, Heagerty PJ, Wijsman EM, Jarvik GP, A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk Journal of lipid research49:588-96 2007 |
| PubMed ID: 18056683 |
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| Podder M, Ruan J, Tripp W, Chu E, Tebbutt J, Robust SNP genotyping by multiplex PCR and arrayed primer extension BMC medical genomics1:5 2007 |
| PubMed ID: 18237385 |
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| de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, Hart J, Hafler DA, Pericak-Vance M, Todd JA, Daly MJ, Trowsdale J, Wijmenga C, Vyse TJ, Beck S, Murray SS, Carrington M, Gregory S, Deloukas P, Rioux JD, A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC Nature Genetics38(10):1166-1172 2006 |
| PubMed ID: 16998491 |
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| Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A, Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes American journal of human genetics79:332-41 2006 |
| PubMed ID: 16826523 |
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| Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME, Global variation in copy number in the human genome Nature444:444-54 2006 |
| PubMed ID: 17122850 |
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| Walley DC, Tripp BW, Song YC, Walley KR, Tebbutt SJ, MACGT: multi-dimensional automated clustering genotyping tool for analysis of microarray-based mini-sequencing data Bioinformatics (Oxford, England)22:1147-9 2006 |
| PubMed ID: 16522668 |
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| Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005 |
| PubMed ID: 16255080 |
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| Bleasby K, Hall LA, Perry JL, Mohrenweiser HW, Pritchard JB, Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6) The Journal of pharmacology and experimental therapeutics314:923-31 2005 |
| PubMed ID: 15914676 |
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| Bustamante CD, Fledel-Alon A, Williamson S, Nielsen R, Hubisz MT, Glanowski S, Tanenbaum DM, White TJ, Sninsky JJ, Hernandez RD, Civello D, Adams MD, Cargill M, Clark AG, Natural selection on protein-coding genes in the human genome Nature437:1153-7 2005 |
| PubMed ID: 16237444 |
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| Ferraren DO, Liu C, Badner JA, Corona W, Rezvani A, Monje VD, Gershon ES, Bonner TI, Detera-Wadleigh SD, Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region on 13q in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet133(1):12-7 2005 |
| PubMed ID: 15635705 |
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| Miretti MM, Walsh EC, Ke X, Delgado M, Griffiths M, Hunt S, Morrison J, Whittaker P, Lander ES, Cardon LR, Bentley DR, Rioux JD, Beck S, Deloukas P, A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet76(4):634-46 2005 |
| PubMed ID: 15747258 |
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| Sabeti PC, Walsh E, Schaffner SF, Varilly P, Fry B, Hutcheson HB, Cullen M, Mikkelsen TS, Roy J, Patterson N, Cooper R, Reich D, Altshuler D, O'Brien S, Lander ES, The case for selection at CCR5-Delta32 PLoS biology3:e378 2005 |
| PubMed ID: 16248677 |
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| Walsh EC, Sabeti P, Hutcheson HB, Fry B, Schaffner SF, de Bakker PI, Varilly P, Palma AA, Roy J, Cooper R, Winkler C, Zeng Y, de The G, Lander ES, O'brien S, Altshuler D, Searching for signals of evolutionary selection in 168 genes related to immune function Human genetics119:92-102 2005 |
| PubMed ID: 16362345 |
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| Yakub I, Lillibridge KM, Moran A, Gonzalez OY, Belmont J, Gibbs RA, Tweardy DJ, Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection The Journal of infectious diseases192:1741-8 2005 |
| PubMed ID: 16235172 |
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| Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN, Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet74(6):1111-20 2004 |
| PubMed ID: 15114531 |
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| Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004 |
| PubMed ID: 15782172 |
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| Norman PJ, Cook MA, Carey BS, Carrington CV, Verity DH, Hameed K, Ramdath DD, Chandanayingyong D, Leppert M, Stephens HA, Vaughan RW, SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex Immunogenetics56:225-37 2004 |
| PubMed ID: 15185041 |
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| Randolph AG, Lange C, Silverman EK, Lazarus R, Silverman ES, Raby B, Brown A, Ozonoff A, Richter B, Weiss ST, The IL12B gene is associated with asthma. Am J Hum Genet75(4):709-15 2004 |
| PubMed ID: 15322986 |
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| Smirnov D, Bruzel A, Morley M, Cheung VG, Direct IBD mapping: identical-by-descent mapping without genotyping Genomics83:335-45 2004 |
| PubMed ID: 14706463 |
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| Haque KA, Pfeiffer RM, Beerman MB, Struewing JP, Chanock SJ, Bergen AW, Performance of high-throughput DNA quantification methods. BMC Biotechnol3(1):20 2003 |
| PubMed ID: 14583097 |
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| PubMed ID: 11951176 |
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