Analysis and functional validation of candidate variants arising from human whole genome sequencing
<p>Whole genome sequencing (WGS) is increasingly used to diagnose rare genetic diseases (RGD). WGS data contains approximately 5,000,000 variants per patient, out of which often one variant causes disease. Variant prioritisation algorithms (VPA) help identify disease-causing variants and funct...
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| Format: | Thesis |
| Language: | English |
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2022
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