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...

Full description

Saved in:
Bibliographic Details
Main Authors: Jose S Pulido, Mandeep S Sagoo, Omar A Mahroo, Alexander Tanner
Format: Article
Language:English
Published: BMJ Publishing Group 2024-04-01
Series:BMJ Open Ophthalmology
Online Access:https://bmjophth.bmj.com/content/9/1/e001565.full
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items