Search Results for genome

... Abstract Late-life aging in humans is often associated with severe frailty. This suggests catastrophic events reaching an undeniable biological threshold in cellular stability and a rapidly diminished homeostasis. The driving force of the syndrome is likely ‘genetic instability' or ‘genomic...

... Abstract Genome-wide association studies (GWAS) provide important insights into type 2 diabetes (T2D) pathogenesis. The common variant GWAS approach enables capture of disease risk-associated sequence variation on a previously unachievable scale, implicating roughly 70 genomic regions in T2D...

... available approaches for replication of primary findings. Whereas genome-wide association studies have implicated previously unknown genes and pathways in T2D pathogenesis, sequencing studies aim to further identify causal variants and mechanisms, build improved clinical risk models, and more fully...

... Abstract Genome-wide association studies (GWAS) of patients with type 2 diabetes (T2D) and unaffected controls (case-control studies) have been hugely successful in identifying T2D risk loci. In the first 2 years of GWAS, over 13 loci were found to associate with T2D risk, 4-fold more than...

... Abstract Genome-wide association studies (GWAS) of obesity-related traits are defining the genetic architecture of obesity, revealing genes and mechanisms for disease. GWAS have been performed for several measures of obesity including body mass index (BMI), body fat distribution, and fat mass...

... Abstract Next generation sequencing approaches have led to completion of several dozen chlamydial genome sequences, most of which are from Chlamydia trachomatis . Analysis of these genomes has shown that chlamydiae, like other obligate intracellular bacteria, have a much reduced genome...

..., together with the known familial aggregation of disease, suggests an inherited mechanism. Recently three genome-wide association studies (GWAS) of IgAN have identified seven susceptibility loci, providing initial insight into the genetic architecture of this trait. While genetic studies of complex traits...

... Abstract Despite the high heritability of human growth traits, until recently little was known about the underlying genes and genetic variants which explain normal variation of growth. In the past few years, genome-wide association studies have successfully identified hundreds of genetic...

... expression and regulation of sexually dimorphic genes in mice. Genome Res 2006;16:995-1004 3. Gregg C, Zhang J, Butler JE, Haig D, Dulac D: Sex-specific parent-of-origin allelic expression in the mouse brain. Science 2010;329:682-685 4. Gregg C: Parental control over the brain. Science 2010;330:770...

... in candidate genes. This was usually in the form of single nucleotide polymorphisms (SNPs), measured one at a time with labor-intensive methods such as restriction fragment length polymorphism [ 1 ]. However, since the initial publication of work on the human genome [ 2 ], major advances in genotyping...

... of their MR. The implementation of targeted array comparative genomic hybridization (aCGH) drastically changed the efficiency of telomere testing and allowed a rapid transition to microarrays covering the whole genome for evaluating individuals with MR. Whole-genome microarray analysis has made a significant...

... or unequal crossing over between interspersed segmental duplications, which make up approximately 5% of the human genome. Additional genomic features, including inversions, can also promote recurrent rearrangement. It is possible to predict which regions of the genome may be susceptible to recurrent...

... Abstract Bacterial pathogens are being sequenced at an increasing rate. To many microbiologists, it appears that there simply is not enough time to digest all the information suddenly available. In this chapter we present several tools for comparison of sequenced pathogenic genomes, and discuss...

... Abstract The whole genome sequence of most human bacterial pathogens is available and the advent of next-generation sequencing technologies will result in a large number of sequenced isolates per pathogenic species. The study of multiple genome sequences of a given bacterium provides insights...

.... As a species, H. pylori possesses one of the most fluid genomes within the prokaryotic kingdom [2], a characteristic that has likely aided its continued success. H. pylori exhibits exceptionally high rates of DNA point mutations, intragenomic recombination (facilitated by repetitive elements common in H...

... Abstract It is a well-known observation and a long-standing hypothesis that pathogen genome dynamics are important in infectious disease processes. Recent achievements in large-scale genome sequencing, comparative genomics and molecular epidemiology help to unravel current challenges of E...