Genotype-phenotype associationSNPsMeta-analysisPurposeGenome-wide association studies have identified several single-nucleotide polymorphisms (SNPs) associated with atrial fibrillation (AF). The relationship between SNPs and the incidence of stroke, heart failure, and the recurrence rate of AF after ...
Genotype-PhenotypeAssociationCMSC702Spring2014 HectorCorradaBravo UniversityofMarylandGWAS•Genome-wideassociationstudies •ScansforSNPs(orotherstructuralvariants) •thatshowassociationwithsomephenotype •categoricalphenotypes:e.g.,age-relatedmaculardegeneration •continuousphenotypes(QTL):bloodpressure •...
This novel echocardiographic association may help clinicians distinguish NSML from NS in ambiguous cases. Early distinction between the two may be important, as syndrome-specific therapies may become available in the near future. This study may encourage further research into genotype–phenotype ...
Detecting significant genotype–phenotype association rules in bipolar disorder: market research meets complex genetics Detecting significant genotype–phenotype association rules in bipolar disorder: market research meets complex geneticsBipolar disorder, Subphenotypes, Rule ... R Breuer,M Mattheisen,J Frank...
ORIGINAL RESEARCH ARTICLE © American College of Medical Genetics and Genomics FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants Diana Mitter, MD1, Milka Pringsheim, MD2,3, Marc Kaulisch, Dipl. Pol4, Kim Sarah Plümacher5, Simone Schröder, PhD5, Rita War...
Some of the most frequent alleles (frequency >1 %) were significantly associated with the severity of the clinical phenotype like c.1066-11G > A (PRA 0) and c.1055delG (p.Gly352Valfs*48) (Fisher exact test, p < 0.05). On the other hand, c.1241A > G (p.Tyr414...
Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients We assessed the contribution of the sweat test, genotyping and nasal potential difference (NPD) in the diagnosis of cystic fibrosis (CF) in adults with dif... D Hubert,T Bienvenu,N Desmazes-Dufeu,... - 《European...
Genotype-Phenotype Association of Matrix Metalloproteinase-3 Polymorphism and Its Synergistic Effect With Smoking on the Occurrence of Acute Coronary SyndromeLiuP.Y.LiY.H.ChanS.H.LiningentaconnectAmerican Journal of CardiologyLiu PY, Li YH, Chan SH, Lin LJ, Wu HL, Shi GY and Chen JH: ...
Genotype/phenotype association analyses (Treescan) with plasma lipid levels and functional site prediction methods (TreeSAAP and PolyPhen) were performed using sequence data for ANGPTL4 from 3,551 patients in the Dallas Heart Study. Biological assays of rare variants in phenotypic tails and results fr...
On macroevolutionary timescales, extensive mutations and phylogenetic uncertainty mask the signals of genotype–phenotype associations underlying convergent evolution. To overcome this problem, we extended the widely used framework of non-synonymous to synonymous substitution rate ratios and developed the novel...