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Article

Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.

PloS one - 1 Jan 2024

Milla Elena, Laguna Javier, Alforja Mª Socorro, Pascual Beatriz, Gamundi María José, Borràs Emma, Hernán Imma, Muniesa María Jesús, Pazos Marta, Duch Susana, Carballo Miguel, Jodar Meritxell

Abstract excerpt

Primary open-angle glaucoma (POAG) is a complex disease with a strong hereditably component. Several genetic variants have recently been associated with POAG, partially due to technological improvements such as next-generation sequencing (NGS). The aim of this study was to genetically analyze patients with POAG to determine the contribution of rare variants and hypomorphic alleles associated with glaucoma as a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

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Share to Glaucoma, Open-Angle

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Share to Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 38241218
DOI: 10.1371/journal.pone.0282133
PMCID: PMC10798505

Genes

CYP1B1
SIX6
CARD10
MFN1
OPTC
OPTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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