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Article

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.

International journal of molecular sciences - 14 Jan 2023

de la Fuente Lorena, Del Pozo-Valero Marta, Perea-Romero Irene, Blanco-Kelly Fiona, Fernández-Caballero Lidia, Cortón Marta, Ayuso Carmen, Mínguez Pablo

Abstract excerpt

Screening for pathogenic variants in the diagnosis of rare genetic diseases can now be performed on all genes thanks to the application of whole exome and genome sequencing (WES, WGS). Yet the repertoire of gene-disease associations is not complete. Several computer-based algorithms and databases integrate distinct gene-gene functional networks to accelerate the discovery of gene-disease associations. We...

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Identifiers

PMID: 36675175
DOI: 10.3390/ijms24021661
PMCID: PMC9864172

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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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