Premium
Molecular Ophthalmic Genetics Tools
Author(s) -
DE BAERE E
Publication year - 2011
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2011.2322.x
Subject(s) - exome , molecular diagnostics , exome sequencing , copy number variation , dna sequencing , computational biology , identification (biology) , disease gene identification , biology , genetics , genome , gene , mutation , botany
Purpose To provide an overview of recent developments in molecular genetic tools applied in ocular genetics. Methods Genomewide strategies for copy number screening (arrayCGH), identity‐by‐descent (IBD) mapping and massive parallel sequencing (MPS) or next‐generation sequencing (NGS) technologies (targeted resequencing, whole exome and genome sequencing) will be discussed. Results Genetic variation, comprising both copy number variation (CNV) and sequence variation, has a great impact on ocular genetic disease. Recent advances in genomewide technologies such as arrayCGH, SNP chip based IBD mapping and NGS have revolutionarized the concept of gene identification and diagnostics of ocular genetic disorders. Examples will be given of applications of arrayCGH in gene identification and molecular diagnostics of developmental ocular disease and the power of IBD mapping and NGS in gene identification and routine diagnostics of retinal dystrophies. Conclusion The throughput and quality of these genomewide technologies now bring DNA‐based personalized diagnostics within immediate reach for research, routine diagnostics and treatment strategies of ocular genetic disease.