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bioinformatics

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France

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Employment (2)

Centre Hospitalier Universitaire de Montpellier: Montpellier, FR

2020 to present | Bioinformaticien (Laboratoire de Génétique Moléculaire)
Employment
Source: Self-asserted source
Charles Van Goethem

Centre Hospitalier Universitaire de Montpellier: Montpellier, FR

2016 to 2020 | Bioinformaticien (Biologie des Tumeurs Solides)
Employment
Source: Self-asserted source
Charles Van Goethem

Education and qualifications (4)

University of Rennes: Rennes, FR

2014 to 2016 | Master de Bioinformatique et Génomique (Biologie)
Education
Source: Self-asserted source
Charles Van Goethem

Université de Bretagne Occidentale: Brest, FR

2012 to 2014 | Licence de Biologie (Biologie)
Education
Source: Self-asserted source
Charles Van Goethem

Université de Bretagne Occidentale: Brest, FR

2011 to 2012 | Licence Informatique (Informatique)
Education
Source: Self-asserted source
Charles Van Goethem

University of Clermont Auvergne: Clermont-Ferrand, FR

2009 to 2011 | DUT Biologie Option Bioinformatique (Institut Universitaire Technique d'Aurillac)
Education
Source: Self-asserted source
Charles Van Goethem

Works (16)

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

European Journal of Human Genetics
2025-01 | Journal article
DOI: 10.1038/s41431-024-01649-0
Contributors: Christel Vaché; Valérie Faugère; David Baux; Luke Mansard; Charles Van Goethem; Claire-Marie Dhaenens; Olivier Grunewald; Isabelle Audo; Christina Zeitz; Isabelle Meunier et al.
Source: check_circle
Crossref

The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation

Cellular and Molecular Life Sciences
2024-12 | Journal article
DOI: 10.1007/s00018-024-05188-1
Contributors: Dylan Da Cunha; Julie Miro; Charles Van Goethem; Cécile Notarnicola; Gérald Hugon; Gilles Carnac; Mireille Cossée; Michel Koenig; Sylvie Tuffery-Giraud
Source: check_circle
Crossref

Titin copy number variations associated with dominant inherited phenotypes

Journal of Medical Genetics
2024-04 | Journal article
DOI: 10.1136/jmg-2023-109473
Part of ISSN: 0022-2593
Part of ISSN: 1468-6244
Contributors: Aurélien Perrin; Corinne Métay; Marco Savarese; Rabah Ben Yaou; German Demidov; Isabelle Nelson; Guilhem Solé; Yann Péréon; Enrico Bertini; Fabiana Fattori et al.
Source: Self-asserted source
Charles Van Goethem

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

International Journal of Molecular Sciences
2023-04-15 | Journal article
DOI: 10.3390/ijms24087330
Contributors: Kevin Yauy; Charles Van Goethem; Henri Pégeot; David Baux; Thomas Guignard; Corinne Thèze; Olivier Ardouin; Anne-Françoise Roux; Michel Koenig; Anne Bergougnoux et al.
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Human Genomics
2023-02-10 | Journal article
DOI: 10.1186/s40246-023-00451-1
Part of ISSN: 1479-7364
Contributors: Jean-Madeleine de Sainte Agathe; Mathilde Filser; Bertrand Isidor; Thomas Besnard; Paul Gueguen; Aurélien Perrin; Charles Van Goethem; Camille Verebi; Marion Masingue; John Rendu et al.
Source: Self-asserted source
Charles Van Goethem

ifCNV: A novel isolation-forest-based package to detect copy-number variations from various targeted NGS datasets

Molecular Therapy - Nucleic Acids
2022-12-13 | Journal article
DOI: 10.1016/j.omtn.2022.09.009
Part of ISSN: 2162-2531
Contributors: Charles Van Goethem
Source: Self-asserted source
Charles Van Goethem

Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains

The Journal of Molecular Diagnostics
2022-07 | Journal article
DOI: 10.1016/j.jmoldx.2022.04.006
Part of ISSN: 1525-1578
Contributors: Charles Van Goethem
Source: Self-asserted source
Charles Van Goethem

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

Brain
2022-07-27 | Journal article
DOI: 10.1093/brain/awac280
Part of ISSN: 0006-8950
Part of ISSN: 1460-2156
Contributors: Charles Van Goethem
Source: Self-asserted source
Charles Van Goethem

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

Scientific Reports
2022-07-06 | Journal article
DOI: 10.1038/s41598-022-15307-2
Part of ISSN: 2045-2322
Contributors: Charles Van Goethem
Source: Self-asserted source
Charles Van Goethem

MobiDetails: online DNA variants interpretation

European Journal of Human Genetics
2021-02 | Journal article
DOI: 10.1038/s41431-020-00755-z
Part of ISSN: 1018-4813
Part of ISSN: 1476-5438
Source: Self-asserted source
Charles Van Goethem

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

Neuromuscular Disorders
2020-11 | Journal article
DOI: 10.1016/j.nmd.2020.09.032
Part of ISSN: 0960-8966
Source: Self-asserted source
Charles Van Goethem

MIAmS: microsatellite instability detection on NGS amplicons data

Bioinformatics
2019-10-24 | Journal article
DOI: 10.1093/bioinformatics/btz797
Part of ISSN: 1367-4803
Part of ISSN: 1460-2059
Source: Self-asserted source
Charles Van Goethem

Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection

The Journal of Molecular Diagnostics
2018-11 | Journal article
DOI: 10.1016/j.jmoldx.2018.06.003
Part of ISSN: 1525-1578
Source: Self-asserted source
Charles Van Goethem

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

The Journal of Molecular Diagnostics
2018-07 | Journal article
DOI: 10.1016/j.jmoldx.2018.03.009
Part of ISSN: 1525-1578
Source: Self-asserted source
Charles Van Goethem

Complete Genome Sequence of <i>Mycobacterium</i> sp. Strain 4858

Genome Announcements
2018-02-15 | Journal article
DOI: 10.1128/genomea.01604-17
Part of ISSN: 2169-8287
Source: Self-asserted source
Charles Van Goethem

Complete Genome Sequence of <i>Mycobacterium</i> sp. Strain 3519A

Genome Announcements
2018-01-25 | Journal article
DOI: 10.1128/genomea.01565-17
Part of ISSN: 2169-8287
Source: Self-asserted source
Charles Van Goethem
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