EGAGenomicszCall, Illumina HumanExome-12v1_A-GenCallOtherhttps://ega-archive.org/studies/EGAS00001000584EGAEGA study EGAS00001000584Title not providedEGArestrictedimprinted and ancient gene protein, other disease, human disease, Risk, Relative Risks., low frequency, Risks, disorders, medical condition, Ximpact, impact-a, non-neoplastic, Relative, disease, diseases, Diseases, disease or disorder, imprinted and ancient gene protein homolog, IMPACT, condition, disorder, diseases and disorders, Homo sapiens disease, E430016J11Rik, RWDD5, infrequent, Relative RiskAdult-Onset Diabetes Mellitus, type 2, GrpL, GRPL, acetylglucosaminyltransferase-like protein, A4, Type 2 Diabetes Mellitus, CG30327, Cost-Minimization, prevention, DmelCG6383, 5730420M11Rik, Relative, STOP, "Multiple sclerosis" EXACT [SNOMEDCT_2005_07_31:155023009], Associations, Non-Insulin Dependent Diabetes Mellitus, Whole Transcriptome, Transcriptome Sequencing, Analysis, Cost Comparison, myd, gamma sarcoglycan, SET, MARIE STRUEMPELL DIS, ankylosing spondylitis, like-acetylglucosaminyltransferase, Genomes, Analyses, Chip, ChIP, crumb, CHIP, Mbp-1, composition, Comparison, Q3 spectrum, Ketosis-Resistant Diabetes Mellitus, NIDDM, DmelCG4299, chip, Cost Analysis, set, Noninsulin-Dependent, Diabetes mellitus, BECHTEREWS DIS, Grf40, sample, Spondyloarthritides, Homo sapiens disease, Childbirths, GRBLG, Marie-Struempell Disease, Left Main Coronary Disease, Disseminated Sclerosis, preventive therapy, l(2)k04405, Adult-onset diabetes mellitus, Exome, familial, High blood pressure, Spondylarthritis Ankylopoietica, Childbirth., ATP synthase D chain, Adult-Onset Diabetes, mKIAA0609, Relative Risks, Spondylitis, sarcoglycan, GRAP-2, Ketosis Resistant, END, finances, Maturity-Onset Diabetes Mellitus, fg, Dmel_CG6393, HTN, Single-Stage Mass Spectrometry, Complete Transcriptome, HLA-DR-associated protein II, DI-2, Marie-Strumpell disease, I-2Dm, content, Type II Diabetes, salaries, "insular sclerosis" EXACT [CSP2005:2042-2324], whole genome, Atherosclerosis, surveillance, I-2PP1, Multiple, MDC1D, TAF-IBETA, non-insulin-dependent, enr, Chromosome, 35kD dystrophin-associated glycoprotein, Whole Exome Sequencing, TAF-Ibeta, financial management, Spondylarthritis, Slow-Onset, hypertension, Cost Analyses, Crbs, HSPABP2, T2DM - Type 2 Diabetes mellitus, "multiple sclerosis" EXACT [NCI2004_11_17:C3243], whole exome, Sclerosis, Multiple Sclerosis, Ankylosing Spondylitis, GRAP2, ARP87C, SCAR16, mitochondrial, LARGE1, Maturity-onset diabetes, DmelCG5203, Stable tubule-only polypeptide, Crumbs, Births, disease or disorder, Arterioscleroses, Bechterew's Disease, MAM, gamma-SG, "Multiple sclerosis" EXACT [ICD9CM_2006:340], Blood Pressure, "Multiple sclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:24700007], "Multiple sclerosis NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:192930001], CT19912, 0509/20, Complete, Exome Sequencings, NY-CO-7, STOP145, occurrence, Cost Measures, Coronary Atheroscleroses, MDDGB6, prevalence, Atheroscleroses, Coronary Artery Diseases, 2pp2a, adult-onset, Sequencing, CG10574, GRB2L, Whole Exome, 2PP2A, 65K, Diabetes Mellitus, Whole, CG42257, Dmel_CG30327, dSET, dSet, snp, UBOX1, constitutitional genetic, fees, 2810411E12Rik, cg11478, Complete Exome Sequencings, 35 kDa dystrophin-associated glycoprotein, Left Main Disease, disorders, CG5203, MODY, MS (Multiple Sclerosis), Bechterew Disease, compositionality, l(2)04405, SGCG, arp1, Exome Sequencing, prophase chromosome, Experiment, MS, T2D, I-2PP2A, Dm I-2, chemical analysis, Slow-Onset Diabetes Mellitus, Maturity-Onset, condition, CRB, Crb, 145-kDa STOP, Arteriosclerosis, outbreaks, Relative Risk, Costs and Cost Analyses, covalent modifier, Costs, DMDA1, ensemble, Ldb, LDB, ARP1, interphase chromosome, prophylaxis, Coronary Atherosclerosis, Cost-Minimization Analysis, Chromatin Immunoprecipitation, Ankylosing Spondylarthritides, Disseminated, primary structure of sequence macromolecule, High, like-glycosyltransferase, control, structure, epidemics, Cost Measure, hereditary, Stable Diabetes Mellitus, MGC130048, Diabetes Type 2, IPP2A2, determination, Mbp1, Measure, Coronary, composed of, diabetes mellitus type 2, CG11478, diseases, Q1 spectrum, RA, ankylosing spondylarthritis, Maturity Onset Diabetes, diseases and disorders, prevention and control, Slow Onset, 2310040B03Rik, Spondylitis Ankylopoietica, Arp, Left Main Coronary Artery Disease, DmelCG42257, Ankylosing Spondyloarthritides, human disease, Coronary Arteriosclerosis, reference sample, TAF-I, Complete Exome Sequencing, Cost-Minimization Analyses, Whole Transcriptome Sequencing, chromatid, Ankylosing, genetic, preventive measures, IGAAD, DmelCG10574, MODY (Maturity-onset diabetes of the young), AW046544, gamma-sarcoglycan, Comparisons, Affordabilities, Non Insulin Dependent, infrequent, Rheumatoid, phapii, wide/broad, CG6383, gyltl1b-b, frequency, High Blood Pressures, SG-gamma, StF-IT-1, results, Noninsulin-dependent diabetes mellitus, GrbX, Adult-Onset, MDDGA6, CG6393, Diseases, "Generalized multiple sclerosis (disorder)" EXACT [SNOMEDCT_2005_07_31:192928003], Mtap6, P38, Coronary Arterioscleroses, Rheumatoid arthritis, KIAA0609, acetylglucosaminyltransferase-like 1A, SDCCAG7, Mitochondrial, gyltl1b, GADS, dLdb, Risk, susceptibility to, Mona, mdc1d, Exomes, common, CG4299, Type 2, gamma (35kDa dystrophin-associated glycoprotein), LARGE_HUMAN, morbidity, Hypertension, Noninsulin-Dependent Diabetes Mellitus, disease, type II, wide, DMDA, Non-Insulin Dependent Diabetes, Artery Disease, Marie Struempell Disease, microarray, inherited genetic, Transcriptome Sequencings, i2pp2a, l(3)S050920, other disease, SGCG_HUMAN, Complete Exome, full spectrum, Noninsulin Dependent, Spondyloarthritis, low frequency, 2210017D18Rik, dCHIP, Parturitions, far, Cost Comparisons, Bechterews Disease, broad, Actr87C, DIABETES MELLITUS TYPE 02, TYPE, PHAPII, froggy, Gyltl1a, Spondylarthritides, DAGA4, Gads, Cost Minimization Analysis, Blood Pressures, rheumatoid arthritis, gdl, Non-Insulin-Dependent, 35DAG, non-insulin-dependent diabetes mellitus, SCG3, Maturity-Onset Diabetes, T2DM, WES, Rheumatoid Spondylitis, Birth, Affordability, Non-Insulin-Dependent Diabetes Mellitus, 1384/04, ipp2a2, Measures, LARGE, Maturity Onset Diabetes Mellitus, financing, non-neoplastic, funding, BPFD#36, generalised multiple sclerosis, GRID, Maturity-onset diabetes mellitus, Noninsulin Dependent Diabetes Mellitus, Stable, taf-ibeta, CG6174, DmelCG3924, disorder, Ketosis-Resistant, grid, generalized multiple sclerosis, 0610033N24Rik, TAG, Diabetes, HHT1, PP1131, High Blood Pressure, incidence, l(3)j1B5, Controlled, Adult Onset, Type 2 diabetes, Controlling, coronary arteriosclerosis, Edg, Adult-onset diabetes, Type 2 diabetes mellitus, Ankylosing Spondylarthritis, Map-6, igaad, medical condition, Ankylosing Spondyloarthritis, group, LGMD2C, l(3)07207, Bekhterev's disease, I2PP2A, sequence, Type 2 Diabetes Mellitus Non-Insulin Dependent, rare (European definition), Left Main Diseases, l(3)S058104, MAP-6, DmelCG6174, Arp87c, Type 2 Diabetes, Complete Transcriptome Sequencing, Cost, Artery Diseases, Risks, Pricing, CG3924, endemics, sample population, Acute Fulminating, Arp87C, dSET/TAF-Ibeta, cost, Rheumatoid Arthritis, 2610030F17Rik, dLDB/Chip, Arp-1, Coronary Artery Disease, SCARMD2, Bekhterev syndrome, BECHTEREW DIS, assay, ORW1, Type II, Spondyloarthritis Ankylopoietica, AA407739, Rheumatoid spondylitis, Maturity Onset, glycosyltransferase-like protein LARGE1falseAssessing the impact of low frequency coding variants on disease risk using the ExomechipFollowing several rounds of Genome Wide Association (GWA) scans and subsequent meta-analyses of results multiple risk loci have been identified for many common diseases. However, in most instances the implicated common variants identified so far explain only a modest fraction of the genetic risk. In parallel to our efforts to identify the causative variants in the known loci it is necessary to assess the full spectrum of sequence variants for disease risk and in particular low frequency and rare variants that have not been tested in a comprehensive way so far. To this end an international effort by investigators who have performed whole exome sequencing in circa 12,000 individuals have assembled a set of ~250,000 exonic variants of low frequency – defined as seen in at least two studies and a minimum of three individuals (non-sysnonymous) or two individuals for SNPs altering splice sites / stop codons. The SNP content from the exome studies was complemented with additional interesting SNP sets totalling 25,000 markers (GWA tag SNPs, grid of common variants, HLA, Mitochondrial, Y-chromosome etc) and were used to generate a custom iSELECT array, the exome chip. Adequately powered association studies to test low frequency variants for association to disease risk are still very expensive if conducted by whole exome sequencing. The exome chip provides a cost efficient way to undertake such an experiment and the Wellcome Trust Cases Control Consortium will be applying this approach to eight diseases, type 1 and type 2 diabetes, coronary artery disease, hypertension, multiple sclerosis, rheumatoid arthritis, bipolar, and ankylosing spondylitis. The first objective will be to generate a large set of at least 10,000 common UK controls as analysis of lower frequency variants will require large sample sizes. This includes ~6000 samples from the 1958 Birth Cohort.2019-10-31 12:52:09EGAS000010005849606EGAD00010000234EGAC00001000205