ESCRS - Whole exome sequencing (WES) and inherited retinal degenerations. ;
ESCRS - Whole exome sequencing (WES) and inherited retinal degenerations. ;

Whole exome sequencing (WES) and inherited retinal degenerations.

WES continues to provide efficient returns in the identification of the genetic diagnosis for a range of inherited retinal disorders.

Whole exome sequencing (WES) and inherited retinal degenerations.
Gearoid Tuohy
Published: Tuesday, August 15, 2017
Research results reported by investigators based at the Department of Genetics & Microbiology, University of Barcelona, Spain, have shown that whole exome sequencing (WES) continues to provide efficient returns in the identification of the genetic diagnosis for a range of inherited retinal disorders. The Spanish research group worked on a cohort of 33 families with a variety of retinal disorders and used WES to define a genetic diagnosis in 18 families while proposing a viable candidate gene in a further 10 cases. http://brief.euretina.org/bio-ophthalmology/whole-exome-sequencing-wes-continues-to-yield-significant-efficiencies-in-clinical-identification-of-inherited-retinal-degenerations-2
Latest Articles
Glaucoma Treatment Under Pressure

New techniques and technologies add to surgeons’ difficult decisions

Read more...

Outside the Box, Inside the Pipeline

Researchers are tackling glaucoma diagnosis and treatment from all sides.

Read more...

The EHDS Is Ready for the Green Light

If proposal is approved, Europe could see better access to, and exchange and use of, health data.

Read more...

ESCRS to Release Guidelines for Cataract and Refractive Surgery

Comprehensive approach to the safest and most effective modern surgery.

Read more...

Barry Fellowship Opens Up ‘Whole New Field of Thought’

The 2022 recipient combines theoretical and practical to learn new treatments.

Read more...

Digitalising the OR—Experience and Perspectives

Benefits include saving time and improving outcomes.

Read more...

ESCRS Heritage Programme

Visionaries past and present.

Read more...

Dynamic Measures Needed for Quality of Vision

Functional visual acuity testing and straylight metering may better reflect real-world conditions.

Read more...

What Is Stopping Digital OR Adoption?

Ophthalmologists know the benefits—now it’s time to construct the right plan.

Read more...

Time to Move Beyond Monofocal IOLs?

European surgeons appear hesitant to first offer other presbyopia-correcting options to patients.

Read more...

;