Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 20 for “"minor allele frequency"”.
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Unleashing the potential of liquid biopsy: allele-informed evaluation of plasma samples for cancer patients management
… sequencing panel covering ∼25 000 high minor allele frequency SNPs and tailored analytical solutions to enable allele-informed evaluation of patients’ tumor. The framework also implements ABEMUS, an ad-hoc computational procedure we specifically designed for cfDNA samples to accurately …
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Genomic and Physiological Approaches to Improve Drought Tolerance in Soybean
… were to identify genomic regions and favorable alleles that contribute to drought-tolerant traits. A diverse panel consisting of 373 maturity group (MG) IV soybean accessions was evaluated for δ13C, δ18O, canopy wilting, canopy coverage, and canopy temperature in multiple environments. A set of …
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Significant Association of IL-18 Genetic Polymorphisms with Aspirin-Intolerant Urticaria in a Korean Population
… and neutrophil chemotactic assay. RESULTS: The minor allele frequency of IL-18 at -607 A>C and haplotype 1 [C-607G-137] showed significantly higher in AIAU than in NC groups(p=0.019, for AIAU vs NC; p=0.048, for AIU vs NC). The promoter-reporter construct carrying the HT1 [CG] displayed …
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XPC Haplotypes Alter DNA Repair Capacity and Levels of Genetic Damage
… All genomic region XPC polymorphisms with a minor allele frequency (MAF) ≥0.05, from the HapMap CEPH population were analyzed using PHASE, generating a series of likely phylogenetically clustered haplotypes. Cigarette smokers and matched non-smokers from a White, non-Hispanic population …
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Using phenotyped but ungenotyped relatives in genetic association tests
… The missingness mechanism, heritability, minor allele frequency, and SNP-specific heritability are important factors in the change in power for dichotomous or quantitative outcomes. We find that the increase in the test statistic from including individuals with genotypes imputed based on …
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Identification of novel coding single nucleotide polymorphisms associated with acute respiratory distress syndrome
… associated with susceptibility to ARDS[minor allele frequency (MAF): 0.219 versus 0.003 (control), p<2.95×10-7 and 0.386 versus 0.046 (control), p<2.95×10-7; respectively]. rs3848719 (MAF 0.394 in cases, 0.287 in controls) is associated with APACHE II score when the score quartiles are …
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Identification of Familial Wilms Tumor Predisposition Genes Using Whole Genome Sequencing
… mesenchyme, is diagnosed in North America at a frequency of 1 in 10,000 live births and accounts for 5% of all pediatric cancers. The etiology of Wilms tumor is heterogeneous with multiple genes known to have an effect on Wilms tumor development; however, these genes are rarely associated with …
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Genetic variation in the IFITM locus and its phenotypic consequences
… coding genes with less than 25% common variant (minor allele frequency > 5%) coverage across all arrays. Poor coverage of genetic variation is therefore one explanation for the lack of IFITM associations in GWAS. The lack of coverage in the genotyping arrays led me to explore other tools to …
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Leveraging Whole Genome Sequences to Compare Mutational Mechanism and Identify Medically Relevant Variation in African versus Non-African Descend Populations
… have gene diversity, high proportion of derived allele at low minor allele frequency (0.0 − 01) and the highest proportion of pathogenic variants within HIV, TB, Malaria, Sickle-Cell disease, while non-African ethnic groups including Latin America, Afro-Asiatic European related ethnic groups have …
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Human host and malaria parasite genome variations to susceptibility to malaria
… regions. For instance, the analysis of the minor allele frequency (MAF) proportion of all pharmacogenes variants obtained from the databases revealed that a high proportion of common variants (MAF > 0.05) of pharmacogenes were higher in the four African population from malaria endemic areas …
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Pathogenicity assessment of genetic variants in von Willebrand disease using quantitative, qualitative, and functional approaches
… These data were used to accurately determine the minor allele frequency (MAF) of these PAVVs. The pathogenicity of each PAVV was then scrutinised using published data. Seventy three of 194 PAVVs were rejected as being pathogenic for VWD. In over half of cases this was because the PAVV occurred too …
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Lipoprotein(a) and the risk of vascular disease
… Tagging SNPs rs10455872 and rs11751605 (minor allele frequency: 8% and 18%, respectively) were associated with 207% (95% CI, 188 - 227%) and 38% (31 - 46%) higher Lp(a) concentrations per copy of minor allele, respectively. These SNPs accounted for 35% and 5% of the variation in …
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Genetic and functional studies in inherited platelet disorders
… with platelet traits. Common variants, with a minor allele frequency (MAF) ≥1% are associated with mild variation in platelet parameters, whereas rare variants (MAF <1%) are associated with extreme phenotypes and inherited platelet disorders (IPDs). The polygenic score (PGS) for platelet count …
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Developing a strategy for identifying genetically important animals
… measure defined by capturing the available alleles in the population. Other population structure measures included a comparison of a phenotypic trait, breeding values, inbreeding levels, heterozygosity, minor allele frequency (MAF) category classification, runs of homozygosity (ROH), Ne, and …
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New Mediators and Novel Mechanisms in Allergic Airway Inflammation
… non-allergic individuals revealed an increased minor allele frequency (MAF) for a non-synonymous SNP (rs3014837) in allergic individuals. It was also established that the major haplotype, containing the major allele at all sites, was more common in non-allergic individuals, while the haplotype …
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Molecular ecology and hierarchical models elucidate chronic wasting disease dynamics
… Prnp through comparisons of gene sequences and allele frequencies within and between species. Our analyses include: 1.) comparisons of genetic and amino acid polymorphisms across protein domains within Prnp, 2.) a within and between species comparison of nucleotide diversity within Prnp to …
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Integrated approaches to elucidate the genetic architecture of congenital heart defects
… burden of inherited rare missense variant (minor allele frequency < 1% in 1000 genomes) (Fisher exact test, P= 8.8 × 10^‐05) in about 10% of the isolated Tetralogy of Fallot patients. I also modified the transmission disequilibrium test (TDT) to detect any distortion of rare coding allele …
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Functional Genome-wide Association Studies (fGWAS) and genomics landscape of signatures of polygenic adaptation in Botswana populations with HIV-1 C infection
… response. In addition, we evaluated the minor allele frequency (MAF) and generated allele frequency distributions. When comparing cases and controls, derived allele frequency (DAF) revealed a significant difference in the derived allele at low MAF (bin-width = 0-0.05), suggesting that …
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Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry
… script. The proportion of derived and ancestral alleles was computed by downloading the SNP ancestral alleles from Ensembl and verifying the presence of the SNPs in dbSNP database. The combined patient and control exomes were annotated using the VCFtools “fillOaa” script. The ancestral alleles …
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Diversity in APOBEC3 and CCR5 host genes and HIV-1 in a South African population
… the relatedness of the sequences. Major and minor variants were determined for HIV-1 and env V3 loop quasispecies was analysed for co-receptor usage; in an effort to draw inferences for the subsequent utility of Maraviroc as salvage therapy in South Africa. Results and Discussion Next …