Author

Guillaume Bassez

InsermORCID 0000-0002-2044-1052Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:long-read sequencing· 3 Approach:experimental assay· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Geneviève GourdoniD· 3 shared Stéphanie ToméiD· 3 shared Tanya StojkoviciD· 3 shared Denis FurlingiD· 2 shared Badreddine Mohand OumoussaiD· 1 shared Cheryl R. Heiner· 1 shared David Stucki· 1 shared Duncan KilburniD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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3 shared papersMolecular Biology

Geneviève GourdonORCID

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3 papers

Recent·Most cited

Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders

Louise Benarroch, Pierre‐Yves Boëlle, Hélène Madry, Badreddine Mohand Oumoussa, Nobuyuki Eura, Ichizo Nishino, Karim Labrèche, Valeriia Gorbunova, Guillaume Bassez, Tanya Stojkovic, Geneviève Gourdon, Gisèle Bonne, Stéphanie Tomé

This study compares CRISPR/Cas9-targeted nanopore sequencing approaches for characterizing repeat expansions in DM1 and OPDM, showing the impact of basecalling strategies and identifying somatic mosaicism and hypermethylation.

Genomics Proteomics & Bioinformatics · Oct 22, 2025Peer-reviewedBioinformatics

CCG interruptions are unstable and hypermethylated in DM1 patients

Sonia Lameiras, Eirini-Maria Lampraki, Duncan Kilburn, Tina Alaeitabar, Ismail Jamail, Nicolas Servant, Sylvain Baulande, Sarah B. Kingan, Sam Holt, Valeriya A. Gaysinskaya, Guilherme De Sena Brandine, David Stucki, Tanya Stojkovic, Guillaume Bassez, Denis Furling, , Stéphanie Tomé

This study shows CCG interruptions in DM1 are unstable and hypermethylated, contributing to CTG repeat stabilization.

bioRxiv · Oct 10, 2024 · PreprintMolecular Biology

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

Yu‐Chih Tsai, Laure de Pontual, Cheryl R. Heiner, Tanya Stojkovic, Denis Furling, Guillaume Bassez, Geneviève Gourdon, Stéphanie Tomé

The paper develops an amplification-free long-read sequencing method using CRISPR/Cas9 to accurately measure CTG repeat expansions in DM1 patients, identifying a CCG-enriched expanded allele.

Journal of Molecular Diagnostics · Sep 7, 2022Peer-reviewedMolecular Biology