Description:
TOSCANI IN ITALIA
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Repository
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NHGRI Sample Repository for Human Genetic Research
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| Subcollection |
NHGRI Sample Repository for Human Genetic Research |
| 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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Country of Origin
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ITALY
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Relation to Proband
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proband
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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 LINE assay |
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| Remarks |
At least three out of four grandparents were born in Tuscany |
| Ford LC, Jang S, Chen Z, Zhou YH, Gallins PJ, Wright FA, Chiu WA, Rusyn I., A Population-Based Human In Vitro Approach to Quantify Inter-Individual Variability in Responses to Chemical Mixtures Toxics10: 2022 |
| PubMed ID: 36006120 |
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| 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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| Mareso C, Albion E, Cozza W, Tanzi B, Cecchin S, Gisondi P, Michelini S, Bellinato F, Michelini S, Michelini S, Bertelli M, Marceddu G, Optimization of long-range PCR protocol to prepare filaggrin exon 3 libraries for PacBio long-read sequencing Molecular biology reports50:3119-3127 2022 |
| PubMed ID: 36692677 |
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| Botton MR, Yang Y, Scott ER, Desnick RJ, Scott SA, Phased Haplotype Resolution of the Genes11:3119-3127 2020 |
| PubMed ID: 33198140 |
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| Holt CL, Stephens KM, Walichiewicz P, Fleming KD, Forouzmand E, Wu SF, Human Mitochondrial Control Region and mtGenome: Design and Forensic Validation of NGS Multiplexes, Sequencing and Analytical Software Genes12:3119-3127 2020 |
| PubMed ID: 33921728 |
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| Wong KHY, Ma W, Wei CY, Yeh EC, Lin WJ, Wang EHF, Su JP, Hsieh FJ, Kao HJ, Chen HH, Chow SK, Young E, Chu C, Poon A, Yang CF, Lin DS, Hu YF, Wu JY, Lee NC, Hwu WL, Boffelli D, Martin D, Xiao M, Kwok PY, Towards a reference genome that captures global genetic diversity Nature communications11:5482 2020 |
| PubMed ID: 33127893 |
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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 therapeutics11:5482 2019 |
| PubMed ID: 31206625 |
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| Sangkuhl K, Whirl-Carrillo M, Whaley RM, Woon M, Lavertu A, Altman RB, Carter L, Verma A, Ritchie MD, Klein TE, Pharmacogenomics Clinical Annotation Tool (PharmCAT) Clinical pharmacology and therapeutics11:5482 2019 |
| PubMed ID: 31306493 |
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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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| 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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| 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., Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology 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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| 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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