Importance of genome reference and population datasets for annotation and prioritization of disease-causing variants in inherited retinal diseases.

Abstract excerpt

In an era of expanding sequencing technologies, increased variant identification requires assignment of potential functional impact to prioritize those that may be disease-causing. In this data note, we demonstrate the importance of using a refined human genome reference assembly and more diverse and curated population-based databases in guiding functional annotation of variants identified in inherited retinal...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Databases, Genetic
• Share to Genetic Variation