objective: type 2 diabetes (t2d) as a complex disease is the result of genetically heterogeneous factors and environmental issues interaction. linkage and small-scale candidate gene studies were successful in identification of genetic susceptibilities of monogenic form of diseases. however, they were largely unsuccessful while applying to the more common forms of disease. by designing genome wi...

myocardial infarction (mi) and its major determinant, coronary artery disease (cad), are complex diseases arising from the interaction between several genetic and environmental factors. until recently, the genetic basis of these diseases was poorly understood. genome-wide genetic association studies have afforded a comprehensive insight into the association between genetic variants and diseases...

considering that mapk (mitogen- activated protein kinase) signaling pathway has an important role in the progression of inflammatory cytokine secretion in type 2 diabetes mellitus (t2dm), we have recently investigated the reported genetic polymorphism from genome wide association study in map3k1 (mitogen-activated protein kinase kinase kinase 1) in diabetes as an important member of mapk signal...

Genome-wide association studies (GWAS) test hundreds of thousands genetic variants across many genomes to find those statistically associated with a specific trait or disease. This methodology has generated myriad robust associations for range traits and diseases, the number is expected grow steadily as GWAS sample sizes increase. results have applications, such gaining insight into phenotype’s...

Faculdade de Ciências Agrárias e Veterinárias, Universidade Estadual Paulista, Jaboticabal, SP 14884-900, Brazil The University of Queensland, Queensland Alliance for Agriculture and Food innovation, Centre for Animal Science, Brisbane, Qld 4062, Australia CSIRO Food Futures Flagship and Animal, Health and Food Sciences, 306 Carmody Road, St Lucia, QLD 4067, Australia Faculdade de Medicina Vete...

Genetic association studies have become an important part of our scientific landscape. This commentary discusses some basic scientific issues which should be considered when reporting and evaluating such studies including SNP Discovery, Genotyping and Haplotype Analysis; Population Size, Matching of Cases and Controls, and Population Stratification; Phenotype Definition and Multiple Related Phe...

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in models that capture causal relationships, for example, how individual genetic factors cause major human diseases. In this work, we focus on two challenges in par...

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in models that capture causal relationships, for example, how individual genetic factors cause major human diseases. In this work, we focus on two challenges in par...

Genome-wide association (GWA) studies are best understood as an extension of candidate gene association studies, scaled up to cover hundreds of thousands of markers across the genome in samples usually of several thousand cases and controls. The GWA approach allows the detection of much smaller effect sizes than with previous linkage-based genome-wide studies. However, this sensitivity makes th...