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Genetic analysis of ocular tumour-associated genes using large genomic datasets: insights into selection constraints and variant representation in the population

BackgroundLarge 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.MethodsA curated list of ocular tumour-associated genes was assessed using the genomic databas...

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Bibliographic Details
Published in:BMJ open ophthalmology 2024-02, Vol.9 (1), p.e001565
Main Authors: Tanner, Alexander, Sagoo, Mandeep S, Mahroo, Omar A, Pulido, Jose S
Format: Article
Language:English
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Summary:BackgroundLarge 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.MethodsA 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
ISSN:2397-3269
2397-3269
DOI:10.1136/bmjophth-2023-001565