https://hakim.bouazzaoui.fr/Recent content on Hakim BouazzaouiHugoen-USCopyright Hakim Bouazzaoui. Tous droits réservés sauf mention contraire.Sun, 31 May 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/projects/onkogene/Sun, 31 May 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/projects/onkogene/<p>Onkogene.com is a scientific literature monitoring platform focused on genomic medicine of solid tumors. It surfaces curated articles of interest for oncologists, molecular geneticists and bioinformaticians working at the intersection of genomics and artificial intelligence.</p>https://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/projects/reussir-naturalisation/Sun, 31 May 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/projects/reussir-naturalisation/<p>Reussir Naturalisation is a digital learning tool designed to help candidates prepare for French naturalization exams. It offers structured courses, flashcards and multiple-choice quizzes covering the full curriculum.</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/publications/smarca4-eye-developmental-anomalies/Thu, 22 Jan 2026 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/smarca4-eye-developmental-anomalies/<p>Contribution to an article expanding the phenotypic spectrum associated with loss-of-function SMARCA4 variants to ocular developmental anomalies.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.1111/cge.70143">10.1111/cge.70143</a></li> <li>PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/41568967/">PMID 41568967</a></li> <li>Europe PMC: <a href="https://europepmc.org/article/MED/41568967">notice</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/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/publications/epigen-network-epilepsy-genetic-diagnosis/Fri, 01 Aug 2025 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/epigen-network-epilepsy-genetic-diagnosis/<p>Contribution to a French multicenter study on the clinical and genetic landscape of patients referred for genetic diagnosis of epilepsy.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.1111/ene.70324">10.1111/ene.70324</a></li> <li>PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/40778729/">PMID 40778729</a></li> <li>Europe PMC: <a href="https://europepmc.org/article/MED/40778729">PMC12332890</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>https://hakim.bouazzaoui.fr/publications/tubb3-fetal-diagnosis-phenotypic-variability/Tue, 03 Dec 2024 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/tubb3-fetal-diagnosis-phenotypic-variability/<p>First-author article on a TUBB3 variant, fetal diagnosis and phenotypic variability within a single family.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.1002/pd.6715">10.1002/pd.6715</a></li> <li>PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39625365/">PMID 39625365</a></li> <li>Europe PMC: <a href="https://europepmc.org/article/MED/39625365">PMC11717741</a></li> </ul>https://hakim.bouazzaoui.fr/publications/shox-retards-staturaux-cnv-sequencage/Wed, 27 Nov 2024 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/shox-retards-staturaux-cnv-sequencage/<p>Contribution to a retrospective multicenter study on short stature related to the SHOX gene, the role of CNVs and the contribution of sequencing.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.1016/j.morpho.2024.100899">10.1016/j.morpho.2024.100899</a></li> <li>EM Consulte: <a href="https://www.em-consulte.com/article/1704080/retards-staturaux-lies-au-gene-shox-etude-retrospe">article page</a></li> </ul>https://hakim.bouazzaoui.fr/publications/amp-malformations-congenitales-sante-postnatale/Mon, 05 Sep 2022 00:00:00 +0000https://hakim.bouazzaoui.fr/publications/amp-malformations-congenitales-sante-postnatale/<p>Article published in <em>Perinatalite</em> on assisted reproductive technology, congenital malformations and postnatal health.</p> <h2 id="links">Links</h2> <ul> <li>DOI: <a href="https://doi.org/10.3166/rmp-2022-0155">10.3166/rmp-2022-0155</a></li> <li>Cairn: <a href="https://stm.cairn.info/revue-perinatalite-2022-2-page-77?lang=fr">article page</a></li> </ul>https://hakim.bouazzaoui.fr/talks/seminaire-genetique-ouest-tubulinopathies/Thu, 01 Sep 2022 00:00:00 +0000https://hakim.bouazzaoui.fr/talks/seminaire-genetique-ouest-tubulinopathies/<p>Recorded talk on tubulinopathies, connected to the <a href="https://hakim.bouazzaoui.fr/publications/tubb3-fetal-diagnosis-phenotypic-variability/">TUBB3</a> publication.</p> <figure class="media-embed"> <div class="video-frame"> <iframe src="https://www.youtube-nocookie.com/embed/1A5uG8MBoew" title="Seminaire de genetique de l&#39;Ouest - Abdelhakim Bouazzaoui" loading="lazy" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" allowfullscreen></iframe> </div> <figcaption>Seminaire de genetique de l&#39;Ouest - Abdelhakim Bouazzaoui</figcaption> </figure>