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 2 of 2 for “"Variant Effect Predictor"”.
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Investigating the role of demography and selection in genome scale patterns of common and rare variant diversity in humans
… picture of the patterns of functional and rare variants worldwide high coverage WGS data from 483 individuals (including 379 novel genomes) were analysed. Ingenuity Variant Analysis and the Ensembl Variant Effect Predictor were applied to a subset of these genomes (n = 382) to create a …
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Probing PAX6-DNA interactions using high-throughput yeast one-hybrid assays and deep mutational scanning
… as causing aniridia, while most missense variants produce a broad range of other discrete ocular pathologies. The interplay between PAX6 and its DNA targets is complicated by multiple functionally distinct subdomains, co-factors, and divergent spectra of disease phenotypes. Knowledge of …