Cargando…

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

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 in...

Descripción completa

Detalles Bibliográficos
Autores principales:	de la Fuente, Lorena, Del Pozo-Valero, Marta, Perea-Romero, Irene, Blanco-Kelly, Fiona, Fernández-Caballero, Lidia, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864172/ https://www.ncbi.nlm.nih.gov/pubmed/36675175 http://dx.doi.org/10.3390/ijms24021661

Ejemplares similares

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
por: Iancu, Ionut-Florin, et al.
Publicado: (2022)

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
por: Iancu, Ionut-Florin, et al.
Publicado: (2021)

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases
por: Romero, Raquel, et al.
Publicado: (2022)

A computational framework for the prioritization of disease-gene candidates
por: Browne, Fiona, et al.
Publicado: (2015)

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
por: Perea-Romero, Irene, et al.
Publicado: (2021)

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
por: Perea-Romero, Irene, et al.
Publicado: (2021)

Conserved co-expression for candidate disease gene prioritization
por: Oti, Martin, et al.
Publicado: (2008)

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts
por: Damián, Alejandra, et al.
Publicado: (2021)

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
por: López-Rodríguez, Rosario, et al.
Publicado: (2022)

Speeding disease gene discovery by sequence based candidate prioritization
por: Adie, Euan A, et al.
Publicado: (2005)

A Methodology to Identify and Prioritize Gene Candidates for Human Disease
por: Sainz, Jesus
Publicado: (2012)

NetworkPrioritizer: a versatile tool for network-based prioritization of candidate disease genes or other molecules
por: Kacprowski, Tim, et al.
Publicado: (2013)

DADA: Degree-Aware Algorithms for Network-Based Disease Gene Prioritization
por: Erten, Sinan, et al.
Publicado: (2011)

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
por: Perea-Romero, Irene, et al.
Publicado: (2022)

Candidate gene prioritization with Endeavour
por: Tranchevent, Léon-Charles, et al.
Publicado: (2016)

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies
por: Del Pozo-Valero, Marta, et al.
Publicado: (2022)

ProphTools: general prioritization tools for heterogeneous biological networks
por: Navarro, Carmen, et al.
Publicado: (2017)

Improved human disease candidate gene prioritization using mouse phenotype
por: Chen, Jing, et al.
Publicado: (2007)

Disease candidate gene identification and prioritization using protein interaction networks
por: Chen, Jing, et al.
Publicado: (2009)

Prioritizing disease candidate genes by a gene interconnectedness-based approach
por: Hsu, Chia-Lang, et al.
Publicado: (2011)

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases
por: Smedley, Damian, et al.
Publicado: (2014)

Prioritizing candidate diseases-related metabolites based on literature and functional similarity
por: Wang, Yongtian, et al.
Publicado: (2019)

System-Level Analysis of Alzheimer’s Disease Prioritizes Candidate Genes for Neurodegeneration
por: Brabec, Jeffrey L., et al.
Publicado: (2021)

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years
por: Del Pozo-Valero, Marta, et al.
Publicado: (2022)

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
por: Kim, So Young, et al.
Publicado: (2021)

Prioritization of candidate disease genes by topological similarity between disease and protein diffusion profiles
por: Zhu, Jie, et al.
Publicado: (2013)

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
por: Perea-Romero, I., et al.
Publicado: (2021)

Update of the G2D tool for prioritization of gene candidates to inherited diseases
por: Perez-Iratxeta, Carolina, et al.
Publicado: (2007)

Correction: Disease candidate gene identification and prioritization using protein interaction networks
por: Chen, Jing, et al.
Publicado: (2009)

Interactogeneous: Disease Gene Prioritization Using Heterogeneous Networks and Full Topology Scores
por: Gonçalves, Joana P., et al.
Publicado: (2012)

DomainRBF: a Bayesian regression approach to the prioritization of candidate domains for complex diseases
por: Zhang, Wangshu, et al.
Publicado: (2011)

Parkinson's disease candidate gene prioritization based on expression profile of midbrain dopaminergic neurons
por: Vahedi, Shahrooz, et al.
Publicado: (2010)

Global Prioritization of Disease Candidate Metabolites Based on a Multi-omics Composite Network
por: Yao, Qianlan, et al.
Publicado: (2015)

Prioritizing chronic obstructive pulmonary disease (COPD) candidate genes in COPD-related networks
por: Zhang, Yihua, et al.
Publicado: (2017)

Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
por: Blanco-Kelly, Fiona, et al.
Publicado: (2012)

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
por: Blanco-Kelly, Fiona, et al.
Publicado: (2017)

Prioritizing Suggestive Candidate Genes in Migraine: An Opinion
por: Frederiksen, Simona Denise
Publicado: (2022)

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families
por: Pérez-Carro, Raquel, et al.
Publicado: (2018)

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
por: Tamayo, Alejandra, et al.
Publicado: (2023)

Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks
por: Rao, Aditya, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_1f9fes32tifd9p8ma7r3skq85o