{"id":"W4392282847","doi":"10.1126/science.adh4059","title":"The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants","year":2024,"lang":"en","type":"article","venue":"Science","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; McGill Genome Centre","funders":"NHLBI Division of Intramural Research; National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; Vlaamse regering; Science for Life Laboratory; Howard Hughes Medical Institute; Vetenskapsrådet; Kuwait Foundation for the Advancement of Sciences; Fonds Wetenschappelijk Onderzoek; Qatar National Research Fund; KU Leuven; Fondation pour la Recherche Médicale; Institut National Du Cancer; CSL Behring; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; Institut National de la Santé et de la Recherche Médicale; Sidra Medicine; Institut des maladies génétiques Imagine; King Abdullah University of Science and Technology; National Center for Research Resources; National Institute of Allergy and Infectious Diseases; Agence Nationale de la Recherche; King Abdulaziz City for Science and Technology; Fonds National de la Recherche Luxembourg; Brigham and Women's Hospital; Göran Gustafssons Stiftelser; St. Giles Foundation","keywords":"T-cell receptor; Biology; Immunology; Medicine; Evolutionary biology; Computational biology; Immune system; T cell","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004788164,0.0003685468,0.0001811243,0.0004624523,0.0002655478,0.0002989204,0.0001230617,0.0004040805,0.001453384],"category_scores_gemma":[0.0001727419,0.000112573,0.0001019351,0.0002261431,0.0003940165,0.0001536344,0.0002235223,0.0002903886,0.0003058436],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008386327,"about_ca_system_score_gemma":0.00005957675,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002929975,"about_ca_topic_score_gemma":0.0003677121,"domain_scores_codex":[0.9999288,0.000008545036,0.000007656631,0.00002999365,0.00001068166,0.000014227],"domain_scores_gemma":[0.9999094,0.00002101983,0.00002859912,0.00001209825,0.000007331377,0.00002143561],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000944982,0.0001159646,0.1915324,0.000190317,0.0000925295,0.08871031,0.0008180357,0.0004302802,0.6782729,0.0009636555,0.00114774,0.03678082],"study_design_scores_gemma":[0.00003829135,0.0008425709,0.3709633,0.00004053671,0.0001522036,0.5793469,0.0004951908,0.000644578,0.03788022,0.001211672,0.008347071,0.00003756591],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974748,0.0007051811,0.000491589,0.00006434201,0.000005021434,0.000004889206,0.0001227735,0.00003224677,0.001099015],"genre_scores_gemma":[0.9991,0.0002547702,0.0002472324,0.00004002851,0.0000127884,0.000002708936,0.00006410932,0.000006966228,0.0002715099],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001453384,"threshold_uncertainty_score":0.00486201,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009434987994345997,"score_gpt":0.2683524640173306,"score_spread":0.2589174760229846,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}