期刊
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
卷 15, 期 10, 页码 1269-1275出版社
TAYLOR & FRANCIS AS
DOI: 10.1586/14737159.2015.1081057
关键词
genes; genetic testing; genotyping; inherited retinal dystrophy; LCA; molecular diagnosis; NGS; retina; retinitis pigmentosa; Stargardt disease
类别
资金
- Retina Australia
- Department of Medical Technology and Physics, Sir Charles Gairdner Hospital
Next-generation sequencing, also known as massively paralleled sequencing, offers an unprecedented opportunity to study disease mechanisms of inherited retinal dystrophies: a dramatic change from a few years ago. The specific involvement of the retina and the manageable number of genes to sequence make inherited retinal dystrophies an attractive model to study genotype-phenotype correlations. Costs are reducing rapidly and the current overall mutation detection rate of approximately 60% offers real potential for personalized medicine and treatments. This report addresses the challenges ahead, which include: better understanding of the mutation mechanisms of syndromic genes in apparent non-syndromic patients; finding mutations in patients who have tested negative or inconclusive; better variant calling, especially for intronic and synonymous variants; more precise genotype-phenotype correlations and making genetic testing more broadly accessible.
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