Disease traitsHumanLinkage disequilibriumMappingSample sizeThe past decade has seen great improvements in biological and computational technology. These improvements have allowed for association mapping studies, which were previously restricted to small genomic regions, to be conducted on a genome-wide basis...
Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016). Article CAS PubMed PubMed Central Google Scholar Samocha, K. E. et al. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46, 944–950 (2014). Article CAS...
two beneficial microbes in humans, were also enriched in the intestinal mucosa. In the large intestine, 81% (13/16) of mucosal-enriched microbes belonged toFirmicutes(Fig.5D). Among luminal-enriched microbes, 42% (13/31) were members ofFirmicutes, followed byBacteroidetes(29%, 9/31). We t...
(which might shed some light on their possible coordinate regulation), map position of genes in specific cytogenetic bands, map position of a disease-related gene in a gene neighborhood, visualization of gene prediction, proteins, expression, variation, comparative analysis, etc. Therefore, annotated...
These markers display major advantages over other systems and will be widely used for linkage mapping purposes in the forthcoming years.关键词: Humans Confidence Intervals Genetic Markers Genotype Genome, Human Genetic Linkage Physical Chromosome Mapping Polymorphism, Single Nucleotide Female Male ...
The zoonotic spillover of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the human population is causing a disease known as coronavirus disease 2019 (COVID-19) (Lu et al., 2020; Paules et al., 2020). Since the first case reported in late December 2019, SARS...
Xq28 has been of special Interest in human genetics because a large number of diseases map to this region. As a step In the molecular analysis of the as yet uncloned disease genes, and as a test for the detailed analysis of larger regions of the genome, we have constructed YAC clone cont...
Most of the agents implicated in foodborne outbreaks are zoonotic agents*. The severity of the disease varies in humans, with effects ranging from mild to serious illness and even death (WHO, food safety). *Agents causing infections that are naturally transmitted between animals and humans. The ...
Anyone can become infected, but the severity of the disease depends on many factors, such as theserovarinvolved, the health conditions of the patient and, in foodborne infections, the composition of the responsible food and the amount of bacteria ingested.Some categories of the population are cons...
Within the non-coding genome, constrained regions are enriched for known regulatory elements and variants that are implicated in complex human diseases and traits, facilitating the triangulation of biological annotation, disease association and natural selection to non-coding DNA analysis. More constrained...