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 11 of 11 for “"ClinVar"”.
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Isoform-Specific Variant and Expression Analysis of Epigenetic Genes in Neurodevelopment and Disease
… neurodevelopment. Methods Public databases (ClinVar, gnomAD, Ensembl BioMart) were used to compute missense variant densities in non-overlapping, isoform-specific exons of EM genes. Genome-wide variant data were used to ensure sufficient coverage. Enrichment was tested using Fisher’s exact …
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Assessing the Clinical Relevance of BRCA1 BRCT Domain Variants of Uncertain Significance
… BRCT missense variants were collected from the ClinVar database and were analyzed using 50 different in silico tools. Molecular Feature Selection Tool (MFeaST) ranked tools based on their ability to discriminate pathogenic and benign variants. Supervised classifiers were then trained using …
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NOVEL APPROACHES IN GENETIC VARIANT DISCOVERY AND CLASSIFICATION TACKLING UNSOLVED PROBLEMS IN CANCER CLINICAL GENOMICS
… The algorithm was trained on the extensive ClinVar database and validated across multiple external databases. RENOVO exhibited high accuracy in classifying known pathogenic and benign variants. It provides a pathogenicity likelihood score, aiding in the interpretation of de novo or variants …
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Genetic exploration of exercise associated sudden death in racehorses
… query of four databases: Phenolyzer, ClinVar, Online Mendelian Inheritance of Man, and OpenTargets. From these, a narrow (genes identified in all four programs) and a broad (genes identified in two or three programs) candidate gene set were established. SnpSift CaseControl was used to …
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Host somatic variation between women living with HIV with cervical intraepitheial lesions (CIN3) and their HIV negative counterparts
… was assessed using SIFT, Polyphen-2, and ClinVar tools. The median age was [37 years (IQR:34-41)] for HIV-positive women and [35 years (IQR:32- 43)] for HIV-negative women. In the HIV-negative cohort the women reported tobacco smoking (p<0.0001), menstruation irregularities (p=0.005), and …
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Common 'Inborn Errors' of Metabolism in the General Population
… as pathogenic for the corresponding IEM in ClinVar and 51 of these were associated with extreme metabolite levels (<2.5th or >97.5th percentile) or had non-additive effects on metabolite levels. Phenome-wide assessment identified 1,553 IFV-phenotype associations at 108 loci. Of the detected …
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Evaluation of TP53 and IGHV clinical molecular prognostic testing for patients with Chronic Lymphocytic Leukaemia at Tygerberg Hospital
… All variants were classified as benign on ClinVar except the c.136T>C variant which was classified as variant of uncertain significance (VUS). Only one variant was located within the deoxyribonucleic acid (DNA)-binding domain (exons 5 to 8), a known hotspot region. The IGHV clonality and …
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Quantitative modelling of CRISPR-Cas editing outcomes
… for correcting pathogenic variants found in ClinVar. The second results chapter focuses on the mutational outcomes of Cas9-induced cuts in repair deficient backgrounds. Cas9 creates a double-stranded break at a targeted location in the genome and the cell repairs this lesion via several …
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Genotype and phenotype in mitochondrial disorders
… variants were prioritised based on gene panels, ClinVar pathogenic/likely pathogenic variants and the top ten prioritised variants from Exomiser. mtDNA variants were called using an in-house pipeline and compared to a list of pathogenic variants. Copy number variants and short tandem repeats for …
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Implementação de funcionalidades para uma plataforma de análise de variantes e novos métodos para prover melhor acurácia na identificação de mutações patogênicas
Current scientific advances in genomics have been provided due to increasing extraction of significant DNA information owing to use of new technologies available for the analysis of genetic data. A current challenge of precision medicine is identify which of the mutations detected by the sequencing …
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Probing PAX6-DNA interactions using high-throughput yeast one-hybrid assays and deep mutational scanning
PAX6 is a highly conserved transcription factor essential for the correct development of the central nervous system, the pancreas, and the eye. Heterozygous deletions, nonsense, and frameshift mutations are generally well characterised as causing aniridia, while most missense variants produce a …