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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 by Jose S Pulido, Mandeep S Sagoo, Omar A Mahroo, Alexander Tanner

    Published 2024-04-01
    “…Haploinsufficiency was determined based on specific criteria: probability of loss of function index ≥0.9 in gnomAD, upper CI O/E limit <0.35 for loss of function variants in gnomAD and/or a DECIPHER pHaplo ≥0.86. …”
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