Benchmarking AlphaMissense against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal Diseases

The authors have no proprietary or commercial interest in any materials discussed in this article.

Authors

Institutions

Publication Details

Journal
Ophthalmology Science
Published
2025-11-12
DOI
https://doi.org/10.1016/j.xops.2025.100997
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Benchmarking AlphaMissense against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal Diseases

Debarshi Mustafi, Mark Lindquist, Stefan T. Stafie, Samson Darrah
Ophthalmology Science
Genomics and Rare Diseases
article

Benchmarking AlphaMissense against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal Diseases

Debarshi Mustafi, Mark Lindquist, Stefan T. Stafie, Samson Darrah
article en

Abstract

The authors have no proprietary or commercial interest in any materials discussed in this article.

Ophthalmology ScienceVol. 6(2)
Seattle Children's Hospital (US), University of Washington (US), The Retina Center (US), Brotman Baty Institute (US), Merrill (United States) (US)
Research to Prevent Blindness, National Eye Institute
Openalex Percentile: Top 64%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.