GRASP: Analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database Summary: We created a deeply extracted and annotated database of genome-wide association studies (GWAS) results. GRASP v1.0 contains >6.2 million SNP-pheno......
Databasesandontologies PhenoScanner:adatabaseofhuman genotype–phenotypeassociations JamesR.Staley 1, *,JamesBlackshaw 1 ,MihirA.Kamat 1 ,SteveEllis 1 , PraveenSurendran 1 ,BenjaminB.Sun 1 ,DirkS.Paul 1 ,DanielFreitag 1 , StephenBurgess 1 ,JohnDanesh 1,2,3 ,RobinYoung 1,4,† and AdamS.Bu...
White D, Rabago-Smith M (2011) Genotype-phenotype associations and human eye color. J Hum Genet 56:5–7. : 10.1038/jhg.2010.126White D & Rabago-Smith M. Genotype-phenotype associa- tions and human eye color. J Hum Genet 2011; 56: 5-7....
A major goal of genotype–phenotype databases is to provide assistance in assigning pathogenicity to genetic variants. As the focus shifts from the investigation of single genes by Sanger sequencing towards the determination of variants in tens, hundreds or thousands of genes or even the entire geno...
R. et al. PhenoScanner: a database of human genotype–phenotype associations. Bioinformatics 32, 3207–3209 (2016). Article PubMed PubMed Central CAS Google Scholar Giambartolomei, C. et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. ...
Inflammatory Bowel Diseases Phenotype, C. difficile and NOD2 Genotype Are Associated with Shifts in Human Ileum Associated Microbial Composition We tested the hypothesis that Crohn's disease (CD)-related genetic polymorphisms involved in host innate immunity are associated with shifts in human ileum.....
uniform pipeline to allow maximum harmonization across the microbiome data and to use GWAS meta-analyses to provide a fuller picture of human gene-microbiome associations. Furthermore, since all the cohorts have been well phenotyped, their data will aid future investigations into other research ...
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been available for common disease. Here, we have developed ...
Another explanation is that RA, as it is now known, is not the optimal phenotype to study. Rheumatoid Arthritis Heterogeneity A problem of genetic studies in RA is that RA defines a very heterogeneous patient group. This heterogeneity is the direct result of the lack of knowledge of RA ...
Within the last decade, the goals of pathology image analysis have shifted from implementing computer- aided diagnostic procedures that recapitulate existing classi- fications, like tumor grade, to more creative analyses that explore genotype–phenotype associations and that define novel prognostic measures...