https://hakim.bouazzaoui.fr/tags/non-coding-variants/Recent content in Non-Coding Variants on Hakim BouazzaouiHugoen-USCopyright Hakim Bouazzaoui. Tous droits réservés sauf mention contraire.Sun, 31 May 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/projects/mobideep/Sun, 31 May 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/projects/mobideep/<p>MobiDeep is a project focused on prioritizing non-coding variants from whole-genome sequencing data. The underlying problem is central in rare diseases: non-coding regions represent a large part of the genome, remain difficult to interpret and may contribute to diagnostic delay.</p>https://hakim.bouazzaoui.fr/publications/mobideep-ai-meta-score-non-coding-variants/Wed, 11 Mar 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/mobideep-ai-meta-score-non-coding-variants/<p>Preprint about <a href="https://hakim.bouazzaoui.fr/projects/mobideep/">MobiDeep</a>, an artificial intelligence meta-score designed to improve prioritization of non-coding variants in whole-genome sequencing data.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.21203/rs.3.rs-8823759/v1">10.21203/rs.3.rs-8823759/v1</a></li> <li>Europe PMC: <a href="https://europepmc.org/article/PPR/PPR1164933">PPR1164933</a></li> <li>Sciety: <a href="https://sciety.org/articles/activity/10.21203/rs.3.rs-8823759/v1">MobiDeep article activity</a></li> </ul>https://hakim.bouazzaoui.fr/talks/seminaire-genetique-ouest-mobideep/Mon, 01 Sep 2025 00:00:00 +0000https://hakim.bouazzaoui.fr/talks/seminaire-genetique-ouest-mobideep/<p>Recorded talk on <a href="https://hakim.bouazzaoui.fr/projects/mobideep/">MobiDeep</a>, benchmarking prioritization tools and developing a meta-score for non-coding variants.</p> <figure class="media-embed"> <div class="video-frame"> <iframe src="https://www.youtube-nocookie.com/embed/inRlS_mNq8o" title="MobiDeep A Benchmark Driven Ensemble Learning Approach - Abdelhakim Bouazzaoui" loading="lazy" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" allowfullscreen></iframe> </div> <figcaption>MobiDeep A Benchmark Driven Ensemble Learning Approach - Abdelhakim Bouazzaoui</figcaption> </figure>https://hakim.bouazzaoui.fr/grants/anpgm-michel-goossens-2025/Thu, 05 Jun 2025 00:00:00 +0000https://hakim.bouazzaoui.fr/grants/anpgm-michel-goossens-2025/<p>Project selected in the 2025 ANPGM Michel Goossens call for projects: optimization of non-coding variant interpretation for the diagnosis of rare diseases identified by WGS.</p> <h2 id="sources">Sources</h2> <ul> <li><a href="https://anpgm.fr/toutes-les-actualit%C3%A9s/aap-michel-goossens-annonce-des-laur%C3%A9ats/">ANPGM announcement</a></li> <li><a href="https://anpgm.fr/media/documents/courrier_Laureats_AAP_Michel_Goossens.pdf">Awardee letter</a></li> </ul>