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 8 of 8 for “"gnomAD"”.
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Improved Constrained Global Optimization for Estimating Molecular Structure From Atomic Distances
… an atom-based optimization, referred to as GNOMAD, which complements a simple interatomic distance potential with van der Waals (VDW) constraints to provide better quality protein structures. However, the improvement in more detailed structural features such as shape and chirality requires …
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Isoform-Specific Variant and Expression Analysis of Epigenetic Genes in Neurodevelopment and Disease
… 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 test with …
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VON WILLEBRAND DISEASE: NEW INSIGHTS INTO THE EPIDEMIOLOGY, PATHOPHYSIOLOGY AND GENOTYPE/PHENOTYPE CORRELATION
… raccolti dal Genome Aggregation Database (gnomAD), il nostro studio ha stabilito una prevalenza globale della VWD sostanzialmente più elevata rispetto ai precedenti studi. (ii) Analizzando 250 soggetti con bassi livelli di VWF (30-50 UI/dL), i nostri risultati indicano che la ridotta …
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Role of the RUNX2 rs59983488 variant in bone mass determination and fracture risk in Malta
… in the European non-Finnish populations from gnomAD. Heterozygosity for the RUNX2 rs59983488 variant was associated with a reduced BMD at the total hip (TH sBMD p = 0.023, TH T-Score p = 0.030) and the femoral neck (FN sBMD p = 0.042, FN T-Score p = 0.020) and serum ALP levels (p = 0.007) …
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The Contribution of Structural Variants to 2,095 Molecular Phenotypes in 12,354 European Ancestry Individuals
… set by other similarly sized cohorts such as gnomAD-SV. Intergenic SVs are more common than all SVs affecting coding regions, and multi-gene SVs are the most rare class as expected. SVs are well tagged by SNPs - 88%, 97%, 93% and 46% of deletions, inversions, reference MEIs and duplications …
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Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon
… are absent from the genome aggregation database (gnomAD), UK10K, Greater Middle East (GME) database, and the Single Nucleotide Polymorphism Database (dbSNP), as well in 122 healthy controls from Cameroon. We also did not identify these pathogenic variants in 118 unrelated sporadic cases of NSHI …
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Investigation of the Conservation of Biological Function in Transposable Elements using a Multiple Alignment Strategy
… conservation metrics (phyloP) and intra-species (gnomAD allele frequency) which we contrast using genome-wide functional datasets such as TF binding motif, KZFP binding activity or chromatin accessibility. While doing this we found that multi-species alignment (Zoonomia) which is the source of …
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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 …