Genetic analysis of ocular tumour-associated genes using large genomic datasets: insights into selection constraints and variant representation in the population
Background Large genomic databases enable genetic evaluation in terms of haploinsufficiency and prevalence of missense and synonymous variants. We explored these parameters in ocular tumour-associated genes.Methods A curated list of ocular tumour-associated genes was assessed using the genomic datab...
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| Główni autorzy: | , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Publishing Group
2024-04-01
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| Seria: | BMJ Open Ophthalmology |
| Dostęp online: | https://bmjophth.bmj.com/content/9/1/e001565.full |
| Etykiety: |
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