Work

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

Year: 2025

Type: article

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2544639

Authors: Stefan T. Stafie, Mark Lindquist, Samuel Kusher-Lenhoff, Kenji Nakamichi, Debarshi Mustafi

Institutions: University of Washington, Seattle Children's Hospital, Brotman Baty Institute

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Eye Institute, Alcon Research Institute, Latham Foundation for the Promotion of Humane Education

Award: The role of non-coding variants in Usher disease

OpenAlex ID: W4413110518

FWCI: 0.535

Cites: 22

Cited by: 1

Related to: 10