The utility of genomic testing in the ophthalmology clinic: A review
Author:
Affiliation:
1. Menzies Institute for Medical Research University of Tasmania Hobart Tasmania Australia
Publisher
Wiley
Subject
Ophthalmology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ceo.13970
Reference69 articles.
1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
3. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
4. Updated recommendation for the benign stand‐alone ACMG/AMP criterion
5. Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants
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