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GenomicsCarbamazepine-induced hypersensitivity reactions in Europeans
An antiepileptic drug carbamazepine is well tolerated by the majority of patients, but can cause severe and potentialy fatal hypersensitivity reactions in a small number of individuals. The aim of this study was to identify genetic predictors of hypersensitivity reactions to carbamazepine. We undert...
EGAS00000000037 | EGA
GenomicsBrigham and Women's Hospital Multiple Sclerosis Genetic Collection

The main objective of this GWA study is to identify Multiple Sclerosis (MS) susceptibility loci. Whole-genome association analysis was performed on 924 individuals genotyped on the Affymetrix 6.0 Genechip. The cohort consisted of 860 clinically diagnosed MS patients and 64 control subjects.

phs000275.v1.p1 | EGA
GenomicsInternational Multiple Sclerosis Genomics Consortium (IMSGC) Genome Wide Association Study of Multiple Sclerosis

The goal of this study is to perform a comprehensive allelic and genotypic association analysis of the entire human genome in multiple sclerosis. The recent definitive linkage genome screen demonstrated that there is no other MS risk gene with an effect size anywhere near that of the MHC. How...

phs000139.v1.p1 | EGA
GenomicsEGAD00000000059
Aggregate results from 43 Carbamazepine-induced hypersensitivity syndrome patients and 1296 1958 British Birth Cohort control samples
EGAD00000000059 | EGA
GenomicsHLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans
Based on the prior knowledge of involvement of the human leukocyte antigen locus in Han Chinese patients with carbamazepine-induced Stevens-Johnson syndrome, we imputed the HLA types for each case and control subject from the array of SNPs in the Human610-Quad GWAS platform (NCBI Build 36.1). We the...
EGAS00000000036 | EGA
GenomicsEGAD00000000058
Aggregate results from 22 Carbamazepine-induced hypersensitivity syndrome patients and 2691 UK National Blood Service (NBS) control samples
EGAD00000000058 | EGA
UnknownRecurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Not available
S-EPMC3738837 | biostudies-literature
UnknownThe major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
Not available
S-EPMC3235490 | biostudies-literature
UnknownTGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Not available
S-EPMC4033668 | biostudies-literature
UnknownAn international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Not available
S-EPMC4073084 | biostudies-literature
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