• Autosomal genetic variance is enriched for common variants and regions of lower linkage disequilibrium. (nature.com)
  • To evaluate the influence of genetic variants and clinical characteristics on the risk of gestational diabetes mellitus (GDM) and to construct and verify a prediction model of GDM in early pregnancy. (biomedcentral.com)
  • Based on the genetic variants and clinical characteristics, this study developed and verified the early pregnancy prediction model of GDM. (biomedcentral.com)
  • Therefore, we intended to find GDM-associated SNPs in Chinese population and hypothesized that an early pregnancy prediction model for GDM can be constructed using genetic risk variants and clinical factors. (biomedcentral.com)
  • We performed a genome-wide association study (GWAS) and exome-sequencing analysis to identify common and rare genetic variants associated with plasma myeloperoxidase (MPO)-DNA complex levels, a biomarker for NETs, in the population-based Rotterdam Study cohort. (frontiersin.org)
  • Genome-wide association studies (GWAS) and exome-sequencing analysis have been successfully implemented as approaches to identify genetic variants associated with disease susceptibility. (frontiersin.org)
  • The assessment of genetic variants in association with NETs might help to elucidate potential molecular mechanisms intervening in their formation and their downstream effect on other pathways. (frontiersin.org)
  • Here, we are the first to apply these approaches to ascertain common and rare genetic variants associated with NETs using data from a population-based cohort study. (frontiersin.org)
  • It among others captures information on diseases, genetic variants and therapeutics. (tno.nl)
  • Genetic variants were biochemically characterised. (bmj.com)
  • Functional analysis revealed impaired PP2A A/C-subunit binding, decreased short linear interaction motif-dependent substrate binding or both-with the most severe phenotypes associated with variants that completely retained one of these binding characteristics and lost the other-further supporting a dominant-negative disease mechanism. (bmj.com)
  • Sometimes large numbers of genes may influence an individual's susceptibility to a particular medical condition and the mutations or genetic variants at play may differ between ethnic groups. (thenationalnews.com)
  • OBJECTIVES- Genome-wide association studies have dramatically increased the number of common genetic variants that are robustly associated with type 2 diabetes. (diabetesjournals.org)
  • The AUC for age, BMI, and sex was 0.78, and adding the genetic risk variants only marginally increased this to 0.80. (diabetesjournals.org)
  • In the case of susceptibility to alcoholism, however, both genetic and environmental factors have been implicated as causes. (brighthub.com)
  • The risk of GDM is determined by both genetic susceptibility and environmental factors. (biomedcentral.com)
  • In addition, a number of different genetic determinants of IS risk have been identified in genome-wide association studies, with single-nucleotide polymorphisms (SNPs) in 9p21, PITX2, HDAC9, ABO, NINJ2, ALDH2, and TSPAN2, all being linked with stroke susceptibility [ 2 ]. (hindawi.com)
  • These SNPs, however, are still thought to account for less than half of all genetic susceptibility to IS, with a number of yet to be discovered genes also contributing to the development of IS. (hindawi.com)
  • Ms Tousi said the imbalance between populations across the world in how well their genetic susceptibility to disease was understood was "an issue that's of great importance" to Illumina. (thenationalnews.com)
  • Phenotypic studies have identified distinct patterns of autistic characteristics in genetic syndromes associated with intellectual disability (ID), leading to diagnostic uncertainty and compromised access to autism-related support. (qxmd.com)
  • This study aims to describe the genetic and phenotypic characteristics of MKD in a large international patient cohort. (biomedcentral.com)
  • Variations in phenotypic characteristics - skin complexion, hair texture, facial features, and stature - play a central role in racial stratification processes throughout the world. (encyclopedia.com)
  • Variation at 4 polymorphic loci, including the diagnostic creatine kinase (CK-A2*) locus, indicated that 19 populations were of southern origin, 5 of northern origin, and 32 of mixed genetic origin. (intechopen.com)
  • Additionally, the USVI spawning population showed signs of a genetic bottleneck, typical of greatly reduced populations. (reef.org)
  • Appendix A. Tables listing the locations of sampled populations and the characteristics of the SSR primers used for genetic analysis. (figshare.com)
  • The clinical characteristics accompanying these genetic forms of CP were compared with published data of large CP populations resulting in the identification of potential indicators of genetic CP. (lu.se)
  • Both species showed genetic diversity comparable to other populations in Central Europe, which is likely to be sufficient for the maintenance of the species in the short term. (mendeley.com)
  • The goal of this investigation is to determine the extent of variability existing among 21 A. haussknechtii and 5 A. altissima populations through agro-morphological characteristics. (innspub.net)
  • Small and/or artificially reduced populations can suffer genetic erosion with long-term consequences to population fitness and persistence. (usgs.gov)
  • Researchers have analyzed genetic variation in people across India and discovered that most Indian people today descended from 2 ancestral populations. (nih.gov)
  • The genetic differences between groups in India, the researchers found, are larger than those between European populations. (nih.gov)
  • Medically, the results imply an increased risk of recessive genetic diseases in Indian populations. (nih.gov)
  • The work of the centre could kick-start research projects that improve the understanding of the genetic basis of disease in Middle Eastern populations. (thenationalnews.com)
  • Scientists in the UAE say that greater investment in genetic studies specific to Middle Eastern populations will help to redress the deficit in knowledge. (thenationalnews.com)
  • Advancements in Genetic Diversity and Genome Characteristics of Durians (Durio spp. (who.int)
  • Huy T. G., Hoan N. K., Thi N. P. A., Khang D. T.. Advancements in Genetic Diversity and Genome Characteristics of Durians (Durio spp. (who.int)
  • T. platyphyllos has a higher genetic diversity for both sets of markers than T. cordata, confirming earlier work. (mendeley.com)
  • Further, within the T. platyphyllos group there was a set of 11 trees that were distinct from the others: they had a lower genetic diversity and were shorter. (mendeley.com)
  • Genetic diversity is the foundation of the improvement of crops. (innspub.net)
  • Genetic diversity and biogeography of the traditional Chinese medicine, Gardenia jasminoides , based on AFLP markers. (innspub.net)
  • She uses genetic and genomic methods to investigate connectivity and to identify adaptive genetic diversity, both of which are important for ensuring persistence of species of conservation concern. (usgs.gov)
  • Her work also explores how to optimally manage the genetic diversity within a species (for example, through translocations) and how to best inventory what species are present and the state of species well-being, persistence, or risk (that is, population size, levels of genetic diversity). (usgs.gov)
  • Genetic Diversity Characteristics in Different Dominance Hierarchies of Pinus yunnanensis Franch. (nefu.edu.cn)
  • There were no significant differences among the different dominance hierarchy trees for the genetic diversity by the difference significance test of statistics method. (nefu.edu.cn)
  • In this study, multilocus sequence typing was used to characterise the genetic diversity and population structure of 24 avian origin C. albicans isolates collected from different birds with candidiasis and compared to human isolates. (springer.com)
  • C. albicans is predominantly diploid and displays high degree of genetic diversity across isolates, notably variations in the distribution of heterozygous polymorphisms along the genome. (springer.com)
  • To broaden our understanding on the population structure and genetic diversity of C. albicans strains in birds, we analysed 30 isolates recovered from animal and human hosts and investigated whether the genotype distribution related to their different source. (springer.com)
  • This review aims to identify the clinical characteristics that are associated with genetic CP to aid clinicians in selecting candidates for genetic testing. (lu.se)
  • The clinical characteristics associated with genetic CP can aid clinicians regarding to which individual with CP to offer genetic testing. (lu.se)
  • Therefore, these four genetic susceptible single nucleotide polymorphisms (SNPs) and six clinical characteristics were included in the construction of the GDM early pregnancy prediction model. (biomedcentral.com)
  • Aims/hypothesis: Low birthweight is a risk factor for type 2 diabetes but it is unknown whether low birthweight is associated with distinct clinical characteristics at disease onset. (lu.se)
  • Most associations between birthweight and clinical characteristics appeared linear, and a higher birthweight was associated with characteristics mirroring lower birthweight in opposite directions. (lu.se)
  • Whole transcriptome sequencing data was used to assess the distribution of molecular subtypes and genetic alterations in 88 pGBM and 34 sGBM in a Chinese population-based cohort, and the biological progression and prognostic impact were analyzed by combining clinical information. (oncotarget.com)
  • This unique resource of data was used to identify new genes, classify patients by genetic subtypes of CN, estimate their relative frequency and correlate genetic subtypes with prognosis and outcome. (biomedcentral.com)
  • Aside from the physical attributes that serve as the expressions of genes, there are also distinct genetic diseases common in indigenous Mayan people. (brighthub.com)
  • Based on studies, there are five major diseases that can be associated with the genetic makeup common to the indigenous Maya. (brighthub.com)
  • GDM and its secondary T2DM are complex polygenic diseases with the following characteristics: more than one gene is involved in pathogenesis, and each gene has a different degree of action [ 8 ]. (biomedcentral.com)
  • It plays an important part in many aspects of human health, including the diagnosis and treatment of some genetic diseases like Williams Syndrome. (datamax.org)
  • Aside from these accomplishments, the indigenous Mayan people have also a distinctive set of genetic traits, so it can be deduced that these people came from an isolated origin with a minimal number of individuals. (brighthub.com)
  • This is clearly shown with nearly 100 percent of the indigenous Mayan population having blood type O. Even up to the modern times, the genetic traits of indigenous Mayan people are distinct enough to allow the easy identification of their descendants. (brighthub.com)
  • Without necessarily stereotyping the Maya people and the rest of the Native Americans, there are certain physical attributes that are expressions of the distinct indigenous Maya genetic traits. (brighthub.com)
  • Compared with classical selection, genomic selection increased genetic gain, with the largest effect on low heritability traits and on traits not recorded on selection candidates (due to within-family selection). (nofima.no)
  • The Illumina Solutions Centre is equipped with genetic testing equipment and offers training in diagnostic tests, such as non-invasive prenatal screening or genomic tests for cancer. (thenationalnews.com)
  • This involves using data sets comprising twin parents and their children to distinguish genetic from environmental associations between parent and child phenotypes. (kcl.ac.uk)
  • The manner in which a person folds arms is one of the clearest dynamic morphological characteristics by which each person can be assigned to one of two alternative phenotypes. (wikipedia.org)
  • The main conclusion is that the manifestation of alternative phenotypes with these characteristics is irrespective of sex and age, and that it is not related to handedness. (wikipedia.org)
  • Supporters of the assumptions that genetic factors play an important role in forming these properties, are reinforced by the data of a very heterogeneous frequencies of alternative phenotypes (R and L) in the explored portion of the world's population. (wikipedia.org)
  • The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. (nih.gov)
  • 1500 individuals with rare genetic syndromes. (qxmd.com)
  • Williams Syndrome is a rare genetic disorder that affects about 1 in every 10,000 births worldwide. (datamax.org)
  • Williams Syndrome is a rare genetic disorder that is caused by a missing genetic material on chromosome 7. (datamax.org)
  • These characteristics of Williams Syndrome are essential to understanding this rare genetic disorder. (datamax.org)
  • Epidemiology data is changing ever since we have a better understanding of molecular and genetic behaviors of these tumors and especially after the new World Health Organization (WHO) classification from 2016. (medscape.com)
  • To overcome these problems, this paper proposes a fault diagnosis method based on the multiple mutation adaptive genetic algorithm-radial basis function neural network (MMAGA-RBFNN), which is suitable for oil well pumps. (hindawi.com)
  • The diagnosis of genetic prion disease is established in a proband with suggestive findings and a heterozygous PRNP pathogenic variant identified by molecular genetic testing. (nih.gov)
  • Influenza surveillance conducted by DODGRS during the 2019-2020 influenza season identified circulating influenza virus (sub)types, provided timely data on the genetic characteristics of the circulating viruses, and estimated influenza VE. (health.mil)
  • Antigenic and genetic characteristics of swine-origin 2009 A(H1N1) influenza viruses circulating in humans. (cdc.gov)
  • And in this case, particular attention was paid to using genetic analysis of circulating viruses to track the spread of measles. (cdc.gov)
  • Looking at the genetic characteristics of viruses can help us to determine the source of infection. (cdc.gov)
  • Therefore, molecular biology is a powerful tool to approach and explore the genetic characteristics of durians. (who.int)
  • As a research geneticist and director of the Fort Collins Science Center's Molecular Ecology Lab, Dr. Oyler-McCance's research is dedicated to the application and advancement of genetic theory and techniques to address a variety of complex questions and conservation issues facing the management of the Nation's fish and wildlife resources and their habitats. (usgs.gov)
  • Despite being a relatively common disease, the precise molecular mechanisms for the onset of ischemic stroke (IS) are still incompletely understood, with both environmental and genetic factors being implicated in this disease in a complex manner. (hindawi.com)
  • The expected nature of the induced genetic changes can be confirmed by molecular analysis of the DNA sequence changes. (europa.eu)
  • A group of scientists led by Dr. David Reich of Harvard and Dr. Lalji Singh of the Centre for Cellular and Molecular Biology in Hyderabad, India, undertook the largest survey ever done of genetic variation among people in India. (nih.gov)
  • In this study, the loess phreatic water (LPW) and bedrock phreatic water (BPW) in the Ning County area (NCA) were sampled and analyzed, and the characteristics and controlling factors of groundwater were determined by using statistical analysis, hydrochemical methods, and hydrogeochemical simulation. (mdpi.com)
  • Assess individual or family risk for a variety of inherited conditions, such as genetic disorders and birth defects. (onetonline.org)
  • The small differences between people are called genetic variations. (nih.gov)
  • Genetic variations affect individual characteristics, such as eye color and blood group. (nih.gov)
  • From the same blood type for the whole population to peculiar physical features, the Maya is an isolated group that retained their own genetic makeup almost unaltered. (brighthub.com)
  • Population genetic evidence suggests differentiation among evolutionarily significant units of southern and northern Appalachian brook trout, with the zone of contact in southwestern Virginia. (intechopen.com)
  • plant population genetics, breeding and genetic resources. (innspub.net)
  • Unweighted pair group method with arithmetic averages (UPGMA) and eBURST analyses showed that the genetic construction of avian origin C. albicans population is fairly diverse. (springer.com)
  • Initial genotype-phenotype correlation identified a group of different genetic defects sharing a high risk of leukaemia transformation in contrast to others with no increased risk of leukaemia. (biomedcentral.com)
  • BACKGROUND: Cerebral palsy (CP) is a clinical diagnosis and was long categorized as an acquired disorder, but more and more genetic etiologies are being identified. (lu.se)
  • Genetic prion disease is inherited in an autosomal dominant manner. (nih.gov)
  • This results in the loss of about 26-28 genes, which can cause a wide range of physical, cognitive, and behavioral characteristics. (datamax.org)
  • Some individuals diagnosed with genetic prion disease may have a parent who is heterozygous for a PRNP pathogenic variant (some of whom may be asymptomatic because of reduced penetrance). (nih.gov)
  • The chemical components, genetic characteristics, and suitable habitat of six cultivars were analyzed in this study. (frontiersin.org)
  • This cutting-edge field involves analysing an individual's genetic characteristics to inform decisions about the most suitable treatment. (thenationalnews.com)
  • Our results indicate that biodiversity at the species and genetic level as well as species' ecology have to be considered in order to guide informed conservation management. (mendeley.com)
  • The identified potential genetic indicators need to be validated in large CP cohorts but can provide the first step toward a diagnostic algorithm for genetic CP. (lu.se)
  • The advantage of this new method is its use of a simple feature extraction method and advanced genetic algorithm to optimize the threshold and weight of the RBF neural network. (hindawi.com)
  • Genetic algorithm (GA) or the particle swarm optimization (PSO) algorithm is usually combined with neural network and applied in fault diagnosis [ 5 - 7 ]. (hindawi.com)
  • Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach. (qxmd.com)
  • Genetic syndromes were associated with different but overlapping autism-related profiles, indicated by the substantial accuracy of the entire, multiclass SVM model (55% correctly classified individuals). (qxmd.com)
  • Since 1991, the National Health and Nutrition Examination Survey (NHANES) has collected and stored genetic specimens for future studies. (cdc.gov)
  • Weighted polygenic scores (PS) for type 2 diabetes and birthweight were calculated to assess the impact of genetic predispositions. (lu.se)
  • CONCLUSIONS: Genetic causes of CP are increasingly identified. (lu.se)
  • The discriminatory ability of the combined SNP information was assessed by grouping individuals based on number of risk alleles carried and determining relative odds of type 2 diabetes and by calculating the area under the receiver-operator characteristic curve (AUC). (diabetesjournals.org)
  • We examined whether a lower or higher birthweight in type 2 diabetes is associated with clinically relevant characteristics at disease onset. (lu.se)
  • Results were robust to adjustments for PS representing weighted genetic predisposition for type 2 diabetes and birthweight. (lu.se)
  • The authors of this study addressed two objectives: 1) which factors (local vs. external recruitment) are important in shaping recovery of the USVI spawning aggregations, and 2) the impact of severe past overfishing on the genetic structure of the Gremmanik Bank aggregation. (reef.org)
  • Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elucidating the genetic landscape of ASD in Vietnamese children. (nature.com)
  • This study describes the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort so far. (biomedcentral.com)
  • Hand clasping: étude anthropologique et génétique" [Hand clasping: anthropological and genetic study]. (wikipedia.org)
  • on behalf of the FinnDiane Study Group, Genetic Risk Score Enhances Coronary Artery Disease Risk Prediction in Individuals With Type 1 Diabetes. (diabetesjournals.org)
  • This study explores the use of a genetic risk score (GRS) for CAD risk prediction, compares it to established clinical markers, and investigates its performance according to the age and pharmacological treatment. (diabetesjournals.org)
  • This executive summary reports on a research study mapping the characteristics of educational innovation projects at WUR (Wageningen University and Research). (wur.nl)
  • Current evidence suggests that the genetic contribution to MPB is strong and polygenic. (nature.com)
  • There are other conditions with possible genetic causes that are highly researched by clinicians and medical experts. (brighthub.com)
  • While many individuals with Williams Syndrome are born with common physical characteristics, such as facial features and smaller stature, they may also experience numerous developmental challenges, including learning disabilities, speech and motor delays, and heart issues. (datamax.org)
  • Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). (nih.gov)
  • These cultivars are classified mainly by fruit and flower characteristics, which cannot be observed at the vegetative stage. (who.int)
  • Overall, these results reveal the intrinsic distinction between pGBM and sGBM, and provide insight into the genetic and clinical attributes of GBM. (oncotarget.com)
  • Presence of intellectual disability, no preterm birth, and no unilateral distribution of symptoms were classified as moderate genetic indicators. (lu.se)
  • When using classical selection in backcrossing schemes, the long-term genetic contribution of the donor line was low. (nofima.no)
  • The Illumina Solutions Centre in Dubai is equipped with genetic testing equipment and offers training in diagnostic tests. (thenationalnews.com)
  • For this second objective, REEF Grouper Moon Project scientists provided genetic samples from individual Nassau Grouper taken from the Little Cayman spawning aggregation, a much larger and less impacted aggregation. (reef.org)
  • Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome. (bvsalud.org)
  • This work calls for greater precision of assessment of autistic characteristics in individuals with genetic syndromes associated with ID. (qxmd.com)
  • Genetic improvement of essential oil and flower production of German chamomile ( Matricaria chammomilla L.) by indirect selection. (innspub.net)
  • Data compiled among genetic studies of brook trout in the southern Appalachians showed that the southern/northern break is sharp, occurring at the New/Roanoke-James watershed divide. (intechopen.com)
  • Although predictive testing (i.e., testing of asymptomatic at-risk adults) is possible, the capabilities and limitations of predictive testing as well as possible socioeconomic and medical care issues should be discussed in the context of formal genetic counseling prior to testing. (nih.gov)
  • Genetic counseling/testing is important for families affected by Williams Syndrome or who may be at risk of having a child with this condition. (datamax.org)
  • It was hypothesised that each syndrome group would evidence a degree of specificity in autistic characteristics. (qxmd.com)
  • Large and heavy earlobes are also characteristic features of a Maya. (brighthub.com)
  • Such features are characteristic of 60-70% of the inhabitants of Ukraine. (slavic-girl.com)
  • These findings replicate and extend previous work, demonstrating syndrome-specific profiles of autistic characteristics in people with genetic syndromes compared to autistic individuals without a genetic syndrome. (qxmd.com)
  • Williams Syndrome is an uncommon genetic disorder that is caused by the partial deletion of chromosome 7 during fetal development. (datamax.org)
  • In this article, we will explore the characteristics of Williams Syndrome, diagnosis and treatment options, living with Williams Syndrome, and future perspectives. (datamax.org)
  • No treatment of the underlying cause of genetic prion disease is available. (nih.gov)
  • Other individuals with genetic prion disease may have the disorder as the result of a de novo PRNP pathogenic variant. (nih.gov)
  • Machine learning algorithms such as genetic programming (GP) can evolve biased classifiers when data sets are unbalanced. (researchgate.net)
  • The household questionnaire consist- ondary data sources do not allow research- ed of questions related to household social ers to follow this framework in its entirety and economic characteristics. (who.int)
  • Yet such genetic testing and diagnostics are particularly important in the Middle East because some conditions with a genetic basis tend to be more prevalent. (thenationalnews.com)
  • Conserving genetic connectivity is fundamental to species persistence, yet rarely is made actionable into spatial planning for imperilled species. (usgs.gov)