Analysis of genetic variation
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T-cell acute lymphoblastic leukemia (T-ALL) is a genetically heterogeneous disease with poor prognosis and inferior outcome. Although multiple studies have been perform on genomics of T-ALL, data from Indian sub-continent is scarce.
9p vikoch 27-06-2024 2 1 Download
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Cathelicidins include antimicrobial peptides (AMPs) and are involved in the innate immune defense against infections in mammals. Polymorphisms in the DNA sequence of cathelicidin genes could be relevant to inherited variations of host innate immunity, adaptation, and pathogen resistance. This study aims to investigate the sequence polymorphism of cathelicidin genes including CATHL2 and CATHL4 from local indigenous yellow cattle breeds of Vietnam.
11p dianmotminh02 03-05-2024 8 1 Download
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Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.
23p vibransone 28-03-2024 1 1 Download
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Variability in drug efficacy and adverse effects are observed in clinical practice. While the extent of genetic variability in classic pharmacokinetic genes is rather well understood, the role of genetic variation in drug targets is typically less studied.
15p vioraclene 31-03-2024 5 1 Download
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Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
The interleukin (IL)-1 pathway is primarily associated with innate immunological defense and plays a major role in the induction and regulation of inflammation. Both common and rare genetic variation in this pathway underlies various inflammation-mediated diseases, but the role of rare variants relative to common variants in immune response variability in healthy individuals remains unclear.
17p vibransone 28-03-2024 3 2 Download
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Blood plasma proteins play an important role in immune defense against pathogens, including cytokine signaling, the complement system, and the acute-phase response. Recent large-scale studies have reported genetic (i.e., protein quantitative trait loci, pQTLs) and non-genetic factors, such as age and sex, as major determinants to inter-individual variability in immune response variation.
15p viellison 28-03-2024 3 2 Download
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Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease.
197p oursky09 08-11-2023 7 3 Download
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Although copy number variation (CNV) has received much attention, knowledge about the characteristics of CNVs such as occurrence rate and distribution in the genome between populations and within the same population is still insufficient.
8p vinarcissa 21-03-2023 5 1 Download
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Genome-wide association studies (GWAS) are a powerful tool for detecting genomic regions explaining variation in phenotype. The objectives of the present study were to identify or refine the positions of genomic regions affecting milk production, milk components and fertility traits in Canadian Holstein cattle, and to use these positions to identify genes and pathways that may influence these traits.
11p vinarcissa 21-03-2023 3 1 Download
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Head spot is one of the phenotypes identified in the KFRS4/Kyo rat strain. Although previous linkage analysis suggested that Ednrb, which is frequently involved in coat color variations in various animals, could be the gene responsible for this phenotype, no mutations have been identified in its coding region.
8p vinarcissa 21-03-2023 3 1 Download
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Considerable natural variation for lifespan exists within human and animal populations. Genetically dissecting this variation can elucidate the pathways and genes involved in aging, and help uncover the genetic mechanisms underlying risk for age-related diseases.
13p vinarcissa 21-03-2023 9 1 Download
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Chloroplast DNA is a primary source of molecular variations for phylogenetic analysis of photosynthetic eukaryotes. However, the sequencing and analysis of multiple chloroplastic regions is difficult to apply to large collections or large samples of natural populations.
14p vinarcissa 21-03-2023 4 1 Download
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Lentil is a self-pollinated annual diploid (2n = 2× = 14) crop with a restricted history of genetic improvement through breeding, particularly when compared to cereal crops. This limited breeding has probably contributed to the narrow genetic base of local cultivars, and a corresponding potential to continue yield increases and stability.
10p vinarcissa 21-03-2023 7 1 Download
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Root is the prime organ that sucks water and nutrients from deep layer of soil. Wild barley diversity exhibits remarkable variation in root system architecture that seems crucial in its adaptation to abiotic stresses like drought. In the present study, we performed quantitative trait locus (QTL) mapping of root and related shoot traits under control and drought conditions using a population of wild barley introgression lines (ILs).
12p vinarcissa 21-03-2023 4 1 Download
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Refractive errors and high myopia are the most common ocular disorders, and both of them are leading causes of blindness in the world. Recently, genetic association studies in European and Japanese population identified that common genetic variations located in 15q14 and 15q25 were associated with high myopia.
5p vinarcissa 21-03-2023 6 1 Download
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In genetic analysis of agronomic traits, quantitative trait loci (QTLs) that control the same phenotype are often closely linked. Furthermore, many QTLs are localized in specific genomic regions (QTL clusters) that include naturally occurring allelic variations in different genes
17p vinarcissa 21-03-2023 3 1 Download
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Modern breeding and artificial selection play critical roles in pig domestication and shape the genetic variation of different breeds. China has many indigenous pig breeds with various characteristics in morphology and production performance that differ from those of foreign commercial pig breeds.
9p vinarcissa 21-03-2023 5 1 Download
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In mammals, an important source of genomic variation is insertion polymorphism of retrotransposons. These may acquire a functional role when inserted inside genes or in their proximity. The aim of this work was to carry out a genome wide analysis of ERE1 retrotransposons in the horse and to analyze insertion polymorphism in relation to evolution and function.
16p vinarcissa 21-03-2023 4 1 Download
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In this study, we aimed to understand the genetic structure of 440 individual wild cherries sampled from 22 different populations in Turkey using 10 SSR molecular markers. With the molecular variance analysis, we found that the genetic diversity within the population is approximately 88.5% and the genetic diversity among the populations is approximately 9.8%. Thus, wild cherry genetic diversity within populations is high whereas it is moderate between tested populations (FST values 0.02-0.16).
12p lyhuyenthu 31-01-2023 6 2 Download
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The natural variation of starch phosphate content in potatoes has been previously reported. It is known that, in contrast to raw starch, commercially phosphorylated starch is more stable at high temperatures and shear rates and has higher water capacity.
9p vihagrid 30-01-2023 6 3 Download