Cargando…

Classification of non-coding variants with high pathogenic impact

Whole genome sequencing is increasingly used to diagnose medical conditions of genetic origin. While both coding and non-coding DNA variants contribute to a wide range of diseases, most patients who receive a WGS-based diagnosis today harbour a protein-coding mutation. Functional interpretation and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Moyon, Lambert, Berthelot, Camille, Louis, Alexandra, Nguyen, Nga Thi Thuy, Roest Crollius, Hugues
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9094564/ https://www.ncbi.nlm.nih.gov/pubmed/35486646 http://dx.doi.org/10.1371/journal.pgen.1010191

Ejemplares similares

Reconstruction of hundreds of reference ancestral genomes across the eukaryotic kingdom
por: Muffato, Matthieu, et al.
Publicado: (2023)

Genomicus update 2015: KaryoView and MatrixView provide a genome-wide perspective to multispecies comparative genomics
por: Louis, Alexandra, et al.
Publicado: (2014)

Genomicus 2018: karyotype evolutionary trees and on-the-fly synteny computing
por: Nguyen, Nga Thi Thuy, et al.
Publicado: (2018)

Genomicus in 2022: comparative tools for thousands of genomes and reconstructed ancestors
por: Nguyen, Nga Thi Thuy, et al.
Publicado: (2021)

Chromosome evolution at the origin of the ancestral vertebrate genome
por: Sacerdot, Christine, et al.
Publicado: (2018)

An atlas of fish genome evolution reveals delayed rediploidization following the teleost whole-genome duplication
por: Parey, Elise, et al.
Publicado: (2022)

Exogean: a framework for annotating protein-coding genes in eukaryotic genomic DNA
por: Djebali, Sarah, et al.
Publicado: (2006)

Genomicus: five genome browsers for comparative genomics in eukaryota
por: Louis, Alexandra, et al.
Publicado: (2013)

How much does the amphioxus genome represent the ancestor of chordates?
por: Louis, Alexandra, et al.
Publicado: (2012)

Evolution is not Uniform Along Coding Sequences
por: Bricout, Raphaël, et al.
Publicado: (2023)

GenomicusPlants: A Web Resource to Study Genome Evolution in Flowering Plants
por: Louis, Alexandra, et al.
Publicado: (2015)

Human and Non-Human Primate Genomes Share Hotspots of Positive Selection
por: Enard, David, et al.
Publicado: (2010)

Genomicus: a database and a browser to study gene synteny in modern and ancestral genomes
por: Muffato, Matthieu, et al.
Publicado: (2010)

Comparative epigenomics in the Brassicaceae reveals two evolutionarily conserved modes of PRC2-mediated gene regulation
por: Chica, Claudia, et al.
Publicado: (2017)

Nucleosome rotational setting is associated with transcriptional regulation in promoters of tissue-specific human genes
por: Hebert, Charles, et al.
Publicado: (2010)

Improving duplicated nodes position in vertebrate gene trees
por: Peres, Amélie, et al.
Publicado: (2015)

FUSTA: leveraging FUSE for manipulation of multiFASTA files at scale
por: Delehelle, Franklin, et al.
Publicado: (2022)

High precision detection of conserved segments from synteny blocks
por: Lucas, Joseph MEX, et al.
Publicado: (2017)

PhylDiag: identifying complex synteny blocks that include tandem duplications using phylogenetic gene trees
por: Lucas, Joseph MEX, et al.
Publicado: (2014)

Understanding Brassicaceae evolution through ancestral genome reconstruction
por: Murat, Florent, et al.
Publicado: (2015)

Erratum to: Understanding Brassicaceae evolution through ancestral genome reconstruction
por: Murat, Florent, et al.
Publicado: (2016)

Enhancer–gene maps in the human and zebrafish genomes using evolutionary linkage conservation
por: Clément, Yves, et al.
Publicado: (2020)

Preventing Dangerous Nonsense: Selection for Robustness to Transcriptional Error in Human Genes
por: Cusack, Brian P., et al.
Publicado: (2011)

Annotating pathogenic non-coding variants in genic regions
por: Gelfman, Sahar, et al.
Publicado: (2017)

Comparative genomic analysis reveals independent expansion of a lineage-specific gene family in vertebrates: The class II cytokine receptors and their ligands in mammals and fish
por: Lutfalla, Georges, et al.
Publicado: (2003)

Conserved Small Nucleotidic Elements at the Origin of Concerted piRNA Biogenesis from Genes and lncRNAs
por: Jensen, Silke, et al.
Publicado: (2020)

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
por: Bengani, Hemant, et al.
Publicado: (2021)

ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls
por: Biggs, Harry, et al.
Publicado: (2020)

Predicting the impact of non-coding variants on DNA methylation
por: Zeng, Haoyang, et al.
Publicado: (2017)

Ranking of non-coding pathogenic variants and putative essential regions of the human genome
por: Wells, Alex, et al.
Publicado: (2019)

Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report
por: Nguyen, Tran-Thuy, et al.
Publicado: (2019)

On the classification of long non-coding RNAs
por: Ma, Lina, et al.
Publicado: (2013)

Universal Features for the Classification of Coding and Non-coding DNA Sequences
por: Carels, Nicolas, et al.
Publicado: (2009)

The Multitasking System of Swarm Robot based on Null-Space-Behavioral Control Combined with Fuzzy Logic
por: Le Thi Thuy, Nga, et al.
Publicado: (2017)

Community-level consumption of antibiotics according to the AWaRe (Access, Watch, Reserve) classification in rural Vietnam
por: Nguyen, Nam Vinh, et al.
Publicado: (2020)

Identification of cutaneous immune-related adverse events by International Classification of Diseases codes and medication administration
por: Chen, Wenxin, et al.
Publicado: (2022)

Class similarity network for coding and long non-coding RNA classification
por: Zhang, Yu, et al.
Publicado: (2021)

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort
por: Tran, Van Thuan, et al.
Publicado: (2022)

Heuristic Methods for Finding Pathogenic Variants in Gene Coding Sequences
por: Ohanian, Monique, et al.
Publicado: (2012)

Pathogenic variants that alter protein code often disrupt splicing
por: Soemedi, Rachel, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_ig0o7gd1qpqkj80ftfakba33nu