Results 31 to 40 of about 12,192,107 (344)
Scientific Reports, 2017 The number of genetic factors associated with asthma remains limited. To identify new genes with an undetected individual effect but collectively influencing asthma risk, we conducted a network-assisted analysis that integrates outcomes of genome-wide ...
Y. Liu +11 more
doaj +1 more source
Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics [PDF]
Childhood Kidney DiseasesWith the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from
Soo Yeon Kim
doaj +1 more source
Known allosteric proteins have central roles in genetic disease [PDF]
, 2021 Allostery is a form of protein regulation, where ligands that bind sites located apart from the active site can modify the activity of the protein. The molecular mechanisms of allostery have been extensively studied, because allosteric sites are less conserved than active sites, and drugs targeting them are more specific than drugs binding the active ...
arxiv +1 more source
DENTITION CHANGES IN GENETIC DISEASES
Romanian Journal of Oral RehabilitationThis paperwork aims to identify the dentition’s changes in genetic diseases and to find solutions to solve them. Method: We studied 31 patients with different genetic diseases (Down syndrome, Turner syndrome, Prader-Willy syndrome, Bardet-Biel syndrome,
Carmen Galea +4 more
doaj +1 more source
An Atlas of Genetic Correlations across Human Diseases and Traits
Nature Genetics, 2015 Identifying genetic correlations between complex traits and diseases can provide useful etiological insights and help prioritize likely causal relationships.
B. Bulik-Sullivan +12 more
semanticscholar +1 more source
The role of mutation rate variation and genetic diversity in the architecture of human disease [PDF]
, 2013 We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease. We predict that the mutation rate and its genetic diversity should be higher in genes associated with disease, unless all genes that could cause disease have already been identified ...
arxiv +1 more source
Biomedicines, 2021 Endothelial progenitor cells (EPC), which are key effectors in the physiologic vascular network, have been described as relevant players in autoimmune diseases.
Verónica Pulito-Cueto +15 more
doaj +1 more source
A weighted U statistic for association analysis considering genetic heterogeneity [PDF]
, 2015 Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and structural variations predisposing to human diseases, the impact of heterogeneity in genetic studies of complex ...
arxiv +1 more source
Ontology Based Information Extraction for Disease Intelligence [PDF]
International Journal of Research in Computer Science, 2 (6): pp.
7-19, November 2012. doi:10.7815/ijorcs.26.2012.051, 2012 Disease Intelligence (DI) is based on the acquisition and aggregation of fragmented knowledge of diseases at multiple sources all over the world to provide valuable information to doctors, researchers and information seeking community. Some diseases have their own characteristics changed rapidly at different places of the world and are reported on ...
arxiv +1 more source
FinnGen provides genetic insights from a well-phenotyped isolated population
Nature, 2023 Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common
M. Kurki +167 more
semanticscholar +1 more source