Population frequency
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The frequency of a variant in the general population is a key criterion used in the clinical interpretation of sequence variants. With certain exceptions, such as founder mutations, the rarity of a variant is a prerequisite for pathogenicity.
14p vioraclene 31-03-2024 7 2 Download
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Asthma is the most common chronic disease in children, occurring at higher frequencies and with more severe disease in children with African ancestry. Previously unknown genetic variation at the 17q12-21 childhood-onset asthma locus contributes to asthma severity in individuals with African ancestries. We suggest that many other population-specific variants that have not been discovered in GWAS contribute to the genetic risk for asthma and other common diseases.
16p viellison 28-03-2024 2 2 Download
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Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.
18p vicwell 29-02-2024 2 1 Download
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The study was carried out to assess the Knowledge and Practice of food hygiene among food vendors in North East Zone, Nigeria. The researchers used descriptive survey design and the population of the study was some selected food vendors in North East Zone, with population of three hundred and sixty (360) where sixty (60) of them were sampled for the study through simple random sampling technique, the instrument used for the collection of data for the study was selfstructured questionnaire and the data collected were analyzed using frequency counts and percentage.
12p vikissinger 21-12-2023 1 1 Download
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Part 1 book "Epidemiology for field veterinarians - An introduction" includes content: What is epidemiology; the epidemiological approach; investigating disease outbreaks; causality; patterns of disease; measuring disease frequency; diagnosis and screening; sampling populations.
146p oursky10 04-12-2023 4 2 Download
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Disasters caused by natural phenomena are increasing in frequency and devastation. The growing number of cancer survivors constitute a vulnerable population in their need for continuous and high-level care, a vulnerability that is exacerbated in the event of disasters.
11p vioracle 29-09-2023 8 2 Download
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Cancers are as common in individuals with intellectual disabilities as in the general population (GP). For the subgroup of people with profound and multiple disabilities (PMD) who present with both severe intellectual disability and major motor disorders, the frequency and distribution of cancers are currently not known, preventing proper cancer surveillance.
10p vioracle 29-09-2023 4 2 Download
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The allele frequencies and phenotypic distributions of the five important CYP genes in the Vietnamese population are similar to those in East Asia while significantly different from other populations. In silico analysis also provided consistent results with previous experimental studies.
16p vimulcahy 18-09-2023 5 3 Download
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All default electronic health record and drug reference database vendor drug-dose alerting recommendations (single dose, daily dose, dose frequency, and dose duration) were silently turned on in inpatient, outpatient, and emergency department areas for pediatric-only and nonpediatric-only populations.
6p visteverogers 24-06-2023 8 2 Download
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We address a first step toward using social media data to supplement current efforts in monitoring population-level medication nonadherence: detecting changes to medication treatment. Medication treatment changes, like changes to dosage or to frequency of intake, that are not overseen by physicians are, by that, nonadherence to medication.
11p vighostrider 25-05-2023 4 3 Download
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Assessment of genetic diversity of Vigna unguiculata (L.) Walp (cowpea) accessions using informative molecular markers is imperative for their genetic improvement and conservation. The reproducible bands were scored for analyses of dendrograms, principal component analysis, genetic diversity, allele frequency, polymorphic information content, and population structure.
13p vinarcissa 21-03-2023 4 1 Download
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Methods for parentage control in cattle have changed since their initial implementation in the late 1950’s from blood group typing to more current single nucleotide polymorphism determination. In the early 1990’s, 12 microsatellites were selected by the International Society for Animal Genetics based on their informativeness and robustness in a variety of different cattle breeds.
9p vinarcissa 21-03-2023 4 1 Download
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Congenital hearing loss (CHL) is diagnosed in 1 – 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide.
12p vinarcissa 21-03-2023 4 1 Download
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Within a population, the differences of pharmacogenomic variant frequencies may produce diversities in drug efficacy, safety, and the risk associated with adverse drug reactions. With the development of pharmacogenomics, widespread genetic research on drug metabolism has been conducted on major populations, but less is known about minorities.
17p vinarcissa 21-03-2023 1 1 Download
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Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis.
13p vinarcissa 21-03-2023 2 1 Download
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The advent of next-generation sequencing has brought about an explosion of single nucleotide polymorphism (SNP) data in non-model organisms; however, profiling these SNPs across multiple natural populations still requires substantial time and resources.
13p vinarcissa 21-03-2023 4 1 Download
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The structure of haplogroup H reveals significant differences between the western and eastern edges of the Mediterranean, as well as between the northern and southern regions. Human populations along the westernmost Mediterranean coasts, which were settled by individuals from two continents separated by a relatively narrow body of water, show the highest frequencies of mitochondrial haplogroup H.
14p vinarcissa 21-03-2023 4 1 Download
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Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population
Several pathogenesis and genetic factors influence predisposition to antituberculosis drug-induced hepatotoxicity (ATDH) especially for isoniazid (INH). However, the major susceptibility genes for ATDH are N-acetyltransferase 2 (NAT2) and cytochrome P450 2E1 (CYP2E1).
6p vinarcissa 21-03-2023 6 1 Download
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The transcription factor 7-like 2 (TCF7L2) gene is the most significant genetic risk factor for type 2 diabetes (T2D). Association analyses were performed on participants (n = 751, aged between 30 and 64) in the ISOR population-based study in the city of Oran. Dietary intakes were estimated using a weekly food frequency questionnaire.
8p vinarcissa 21-03-2023 2 1 Download
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Anastrepha fraterculus Wiedemann is a horticultural pest which causes significant economic losses in the fruit-producing areas of the American continent and limits the access of products to international markets. The use of environmentally friendly control strategies against this pest is constrained due to the limited knowledge of its population structure.
8p vinarcissa 21-03-2023 3 1 Download