All possible phenotypes are not equally accessible to evolving populations. In fact, only of large size, i.e. those resulting from many different genotypes, found in populations sequences, presumably because they easier discover and maintain. Genotypes that map these usually form mostly connected genotype networks percolate the space thus guaranteeing access a set alternative phenotypes. Within...

cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. these mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. in this study missense mutation r117h that associated with the different clinical symptoms wa...

The paradigm of representation learning through transfer has the potential to greatly enhance clinical natural language processing. In this work, we propose a multi-task pre-training and fine-tuning approach for generalized transferable patient representations from medical language. model is first pre-trained with different but related high-prevalence phenotypes further fine-tuned on downstream...

ments. Blood Coagul Fibrinolysis 1999;10:285–9. 10. Morris A, Marsh JJ, Burrows CM, Chiles PG, Konopka RG, Pedersen CA. Urine and plasma levels of fibrinopeptide B in patients with deep vein thrombosis and pulmonary embolism. Thromb Res 2003;110:159–65. 11. De Palo EF, Gatti R, Lancerin F, De Palo CB, Cappellin E, Solda G, et al. Effects of acute, heavy-resistance exercise on urinary peptide ho...

The polycomb-group genes, a set of genes characterized by mutations that cause similar phenotypes and dosage-dependent interactions, are required for the normal expression of segment-specific homeotic loci. .Here we report that polycombeotic (formerly 1(3)1902), originally identified by a lethal mutation that causes a small-disc phenotype, is also a member of this group of essential genes. Adul...

Background and Purpose—Noninvasive measures of atherosclerosis, such as carotid intima-media thickness, total carotid plaque area, and carotid stenosis, probably represent different phenotypes with distinct determinants. For instance, total carotid plaque area may reflect atherosclerotic lesion size more closely than carotid stenosis, which instead may reflect hemodynamic compromise within the ...

Phenotype descriptions are valuable information right at the interface of medicine and biology. With the rapid advancement in the fi eld of genetics, thousands of genes involved in human diseases have been cloned. It was expected that knowledge of mutations would lead to consistent genotype-phenotype correlations. The understanding of mechanisms underlying genotype-phenotype discrepancies is im...

BACKGROUND : Influence of obesity on the body at whole and with regard to metabolic changes is still unclear. In Russia there are a few data about prevalence phenotypes among population based epidemiological data. AIM assess citizens Arctic area Russian Federation (in Arkhangelsk city setting). MATERIALS AND METHODS cross-sectional study was conducted using random sample (n=2380) 35–69 years ol...