Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Adult
Aged
Exome
/ genetics
Female
Genetic Testing
/ methods
Genotype
High-Throughput Nucleotide Sequencing
/ methods
Humans
Ireland
/ epidemiology
Male
Middle Aged
Mutation
/ genetics
Pedigree
Retina
/ metabolism
Retinal Degeneration
/ genetics
Retinal Diseases
/ genetics
Visual Field Tests
/ methods
genomics
inherited eye disease
next generation sequencing
novel variants
ophthalmic genetics
rare variants
retinopathy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
16 01 2020
16 01 2020
Historique:
received:
16
11
2019
revised:
13
12
2019
accepted:
13
01
2020
entrez:
23
1
2020
pubmed:
23
1
2020
medline:
30
9
2020
Statut:
epublish
Résumé
The Irish national registry for inherited retinal degenerations (Target 5000) is a clinical and scientific program to identify individuals in Ireland with inherited retinal disorders and to attempt to ascertain the genetic cause underlying the disease pathology. Potential participants first undergo a clinical assessment, which includes clinical history and analysis with multimodal retinal imaging, electrophysiology, and visual field testing. If suitable for recruitment, a sample is taken and used for genetic analysis. Genetic analysis is conducted by use of a retinal gene panel target capture sequencing approach. With over 1000 participants from 710 pedigrees now screened, there is a positive candidate variant detection rate of approximately 70% (495/710). Where an autosomal recessive inheritance pattern is observed, an additional 9% (64/710) of probands have tested positive for a single candidate variant. Many novel variants have also been detected as part of this endeavor. The target capture approach is an economic and effective means of screening patients with inherited retinal disorders. Despite the advances in sequencing technology and the ever-decreasing associated processing costs, target capture remains an attractive option as the data produced is easily processed, analyzed, and stored compared to more comprehensive methods. However, with decreasing costs of whole genome and whole exome sequencing, the focus will likely move towards these methods for more comprehensive data generation.
Identifiants
pubmed: 31963381
pii: genes11010105
doi: 10.3390/genes11010105
pmc: PMC7016747
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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