https://hakim.bouazzaoui.fr/tags/rare-diseases/Recent content in Rare Diseases 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/media/fondation-groupama-mobideep/Wed, 26 Nov 2025 00:00:00 +0000https://hakim.bouazzaoui.fr/media/fondation-groupama-mobideep/<p>Institutional article by Fondation Groupama about <a href="https://hakim.bouazzaoui.fr/projects/mobideep/">MobiDeep</a>, Groupama support and the goal of reducing diagnostic delay in rare diseases.</p> <h2 id="links">Links</h2> <ul> <li>Source: <a href="https://www.fondation-groupama.com/article/au-chu-de-montpellier-une-equipe-de-bio-informaticiens-explore-la-matiere-noire-du-genome-dans-lespoir-de-reduire-lerrance-diagnostique/">Fondation Groupama</a></li> </ul>https://hakim.bouazzaoui.fr/media/fonds-guilhem-mobideep/Fri, 05 Sep 2025 00:00:00 +0000https://hakim.bouazzaoui.fr/media/fonds-guilhem-mobideep/<p>Institutional page by Fonds Guilhem describing the MobiDeep project, its goals, results and expected impact for rare disease diagnosis.</p> <h2 id="links">Links</h2> <ul> <li>Source: <a href="https://fondsguilhem.fr/projet/projet-de-recherche-pour-accelerer-le-diagnostic-des-maladies-rares/">Fonds Guilhem</a></li> </ul>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>https://hakim.bouazzaoui.fr/grants/groupama-mobideep/Wed, 01 Jan 2025 00:00:00 +0000https://hakim.bouazzaoui.fr/grants/groupama-mobideep/<p>Funding obtained for <a href="https://hakim.bouazzaoui.fr/projects/mobideep/">MobiDeep</a>, a research project in bioinformatics and molecular genetics applied to rare diseases.</p> <h2 id="sources">Sources</h2> <ul> <li><a href="https://www.fondation-groupama.com/article/au-chu-de-montpellier-une-equipe-de-bio-informaticiens-explore-la-matiere-noire-du-genome-dans-lespoir-de-reduire-lerrance-diagnostique/">Fondation Groupama</a></li> <li><a href="https://fondsguilhem.fr/projet/projet-de-recherche-pour-accelerer-le-diagnostic-des-maladies-rares/">Fonds Guilhem</a></li> </ul>