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Title[redir]:
The Genotype and Phenotype (GaP) registry: a living biobank for the analysis of quantitative traits | Immunologic Research
Description:
We describe the development of the Genotype and Phenotype (GaP) Registry, a living biobank of normal volunteers who are genotyped for genetic markers related to human disease. Participants in the GaP can be recalled for hypothesis driven study of disease associated genetic variants. The GaP has facilitated functional studies of several autoimmune disease associated loci including Csk, Blk, PDRM1 (Blimp-1) and PTPN22. It is likely that expansion of such living biobank registries will play an important role in studying and understanding the function of disease associated alleles in complex disease.
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Keywords {🔍}
pubmed, article, google, scholar, cas, central, disease, genet, genetic, gregersen, ptpn, nat, research, access, analysis, biobank, kim, diamond, human, arthritis, privacy, cookies, content, gap, simpfendorfer, development, autoimmune, loci, blk, open, association, lee, cells, chang, data, publish, search, genotype, phenotype, living, study, genomewide, type, nature, systemic, lupus, erythematosus, identifies, risk, cell,
Topics {✒️}
month download article/chapter cell-specific protein phenotypes c57bl/6-lpr/lpr mice c-maf tyrosine phosphorylation genetic markers related facilitated functional studies influences b-cell signaling genotype-selectable human bioresource gene-based pathway analysis full article pdf hypothesis driven study ptpn22 variant r620w related subjects b-cell activation receptor 7-induced type privacy choices/manage cookies uk biobank resource tyrosine phosphatase ptpn22 ibrahim-verbaas ca dendritic cell activation ptpn22 risk variant open chromatin immune-mediated diseases csk regulatory polymorphism renal immunoglobulin deposition immunol cell biol genetic variants genetic factors genetic architecture simpfendorfer kr induces autoantibody production article gregersen autoimmune locus il2ra article log loci including csk european economic area normal volunteers host–microbe interactions systemic lupus erythematosus de jager pl recent positive selection nf-kappab family finding common ground ann rheum dis sensitive epigenomic profiling blk haploinsufficiency impairs association conditions privacy policy double-stranded dna dna-binding proteins
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description:We describe the development of the Genotype and Phenotype (GaP) Registry, a living biobank of normal volunteers who are genotyped for genetic markers related to human disease. Participants in the GaP can be recalled for hypothesis driven study of disease associated genetic variants. The GaP has facilitated functional studies of several autoimmune disease associated loci including Csk, Blk, PDRM1 (Blimp-1) and PTPN22. It is likely that expansion of such living biobank registries will play an important role in studying and understanding the function of disease associated alleles in complex disease.
datePublished:2015-10-14T00:00:00Z
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