{"id":"W4407476090","doi":"10.1101/2025.02.11.25322033","title":"The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in <i>ADA</i> , <i>DCLRE1C</i> , <i>IL2RG</i> , <i>IL7R</i> , <i>JAK3</i> , <i>RAG1</i> , and <i>RAG2</i>","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Institutes of Health Research","funders":"National Institute of Child Health and Human Development; National Institutes of Health; California Institute of Regenerative Medicine","keywords":"Recombination-activating gene; Interleukin-7 receptor; Immunodeficiency; Biology; Computational biology; Medicine; Immunology; Genetics; Gene; Immune system","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":[0.1050762,0.0007769709,0.001654221,0.01211774,0.002269924,0.004402052,0.005683891,0.002383363,0.00254944],"category_scores_gemma":[0.1235882,0.0006868084,0.002135379,0.006358477,0.001473814,0.001658025,0.0038091,0.002506455,0.002127748],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003156971,"about_ca_system_score_gemma":0.01800582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0131959,"about_ca_topic_score_gemma":0.0225665,"domain_scores_codex":[0.9439894,0.01874059,0.02288045,0.002972356,0.009932476,0.001484845],"domain_scores_gemma":[0.8247336,0.05744736,0.01869985,0.01463405,0.08055371,0.003931307],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001107904,0.0004025624,0.1254307,0.00981349,0.0007819737,0.003139005,0.007191071,0.003343732,0.02082746,0.01345746,0.426662,0.3878426],"study_design_scores_gemma":[0.0006959903,0.0006694275,0.1289835,0.01858382,0.001520777,0.008294648,0.003829385,0.007129771,0.02539443,0.009990225,0.7944341,0.0004739203],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.1832601,0.05058407,0.3607218,0.1090474,0.006844766,0.04381986,0.08430605,0.00826403,0.153152],"genre_scores_gemma":[0.1998592,0.007437997,0.6781791,0.02044241,0.001266332,0.01007602,0.07476818,0.001472301,0.006498413],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.1050762,"threshold_uncertainty_score":0.5557026,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04175612171940985,"score_gpt":0.2710224082534768,"score_spread":0.2292662865340669,"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."}}