DNA sequences that proliferate in the genome using an RNA intermediate and a ‘copy-and-paste’ retrotransposition mechanism. Complex diseases Common diseases caused by interactions of genetics, behaviour and the environment. Long interspersed element 1 (LINE-1 or L1). An autonomous (protein-coding...
The genetic architecture of common diseases is central to the scientific and clinical goals of human genetics because it directly impacts biology, disease screening, diagnosis, prognosis and treatment. Genetic architecture is currently assessed by exploiting the differences in types of genetic variants asc...
“This work can be translated in human patients clinically,” Stitelman continued. “This approach could be used for most diseases where a known genetic mutation causes the disease. Many of these diseases are devastating and currently without cure. Our approach corrects the disease at the most fu...
The genetic architecture of common diseases is central to the scientific and clinical goals of human genetics because it directly impacts biology, disease screening, diagnosis, prognosis and treatment. Genetic architecture is currently assessed by exploiting the differences in types of genetic variants asc...
According to the National Organization for Rare Disorders from 2023, "February 28 has grown into an essential annual celebration to engage the community, elevate the stories of patients and families, drive donations, and advance critical resources and innovative research for rare diseases. To learn ...
Abel L,Dwssein AJ.Genetic epidemiology of infectious diseases in humans:design of popu-lation-based studies. Emerge Infect Dis . 1998Abel, L. and Dessein, A. J. (1998). Genetic Epidemiology of Infectious Diseases in Humans: Design of Population- Based Studies. Emerg. Infect. Dis. 4, 593...
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Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe CO...
Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels acr...
Genetic variation in the ribosomal DNA (rDNA) internal transcribed spacer (ITS) region has been studied among fungi. However, the numbers of ITS sequence polymorphisms in the various Candida species and their associations with sources of invasive fungal infections remain poorly investigated. Here, we...