| Autor: |
Jose S Pulido, Mandeep S Sagoo, Omar A Mahroo, Alexander Tanner |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
BMJ Open Ophthalmology, Vol 9, Iss 1 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2397-3269 |
| DOI: |
10.1136/bmjophth-2023-001565 |
| Popis: |
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 databases Genome Aggregation Database (gnomAD) and DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) and compared with breast and lung cancer-associated gene lists. Haploinsufficiency was determined based on specific criteria: probability of loss of function index ≥0.9 in gnomAD, upper CI O/E limit |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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