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Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity.

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Title: Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity.
Authors: Moushib LI; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; National Center of Hematology, Al-Mustansiriyah University, Baghdad, Iraq., Moreno-Ruiz N; Department of Medicine and Life Sciences, Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra, Barcelona, Spain., Martín-Nalda A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron, Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Rivière JG; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron, Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Urban B; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Dieli-Crimi R; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Perurena-Prieto J; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Aguiló-Cucurull A; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Pérez-Estévez E; Pediatric Intensive Care Unit (PICU), Cruces University Hospital, Bilbao, Spain., Solanich X; Primary Immunodeficiency Unit, Internal Medicine Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain.; Clinical Sciences Department, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain., Soler-Palacín P; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron, Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Colobran R; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Batlle-Masó L; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Source: Frontiers in genetics [Front Genet] 2026 Mar 04; Vol. 17, pp. 1713299. Date of Electronic Publication: 2026 Mar 04 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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  Data: Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity.
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  Data: <searchLink fieldCode="AU" term="%22Moushib+LI%22">Moushib LI</searchLink>; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; National Center of Hematology, Al-Mustansiriyah University, Baghdad, Iraq.<br /><searchLink fieldCode="AU" term="%22Moreno-Ruiz+N%22">Moreno-Ruiz N</searchLink>; Department of Medicine and Life Sciences, Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Martín-Nalda+A%22">Martín-Nalda A</searchLink>; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron, Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Rivière+JG%22">Rivière JG</searchLink>; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron, Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Urban+B%22">Urban B</searchLink>; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Dieli-Crimi+R%22">Dieli-Crimi R</searchLink>; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Perurena-Prieto+J%22">Perurena-Prieto J</searchLink>; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Aguiló-Cucurull+A%22">Aguiló-Cucurull A</searchLink>; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Pérez-Estévez+E%22">Pérez-Estévez E</searchLink>; Pediatric Intensive Care Unit (PICU), Cruces University Hospital, Bilbao, Spain.<br /><searchLink fieldCode="AU" term="%22Solanich+X%22">Solanich X</searchLink>; Primary Immunodeficiency Unit, Internal Medicine Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain.; Clinical Sciences Department, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Soler-Palacín+P%22">Soler-Palacín P</searchLink>; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Infection and Immunity in Pediatric Patient, Vall d'Hebron, Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Colobran+R%22">Colobran R</searchLink>; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Bellaterra, Spain.; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Batlle-Masó+L%22">Batlle-Masó L</searchLink>; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2026 Mar 04; Vol. 17, pp. 1713299. <i>Date of Electronic Publication: </i>2026 Mar 04 (<i>Print Publication: </i>2026).
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