{"id":"W4406313043","doi":"10.1038/s41525-024-00453-5","title":"Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing","year":2025,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"Immunodeficiency Canada","keywords":"T-cell receptor; Exome sequencing; Whole genome sequencing; Biology; T cell; Immunodeficiency; Genome; Genetics; DNA sequencing; Computational biology; Gene; Cell; Mutation; Immune system","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002333231,0.0003993039,0.0002545259,0.0009371315,0.0001669389,0.0004266571,0.0002057002,0.0005873691,0.001103529],"category_scores_gemma":[0.0006155628,0.0001304337,0.000281481,0.0005277864,0.0003075049,0.0001776145,0.0004352858,0.0003569361,0.0003317736],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001522871,"about_ca_system_score_gemma":0.0001549314,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008189529,"about_ca_topic_score_gemma":0.001522947,"domain_scores_codex":[0.9997637,0.00003900733,0.00002279052,0.0000784104,0.00006450798,0.00003171972],"domain_scores_gemma":[0.9997279,0.0001099262,0.00004474706,0.00004227038,0.00004196023,0.00003324764],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.000304897,0.00005375847,0.05725813,0.0003211295,0.0001468073,0.03539732,0.0005346779,0.0009507669,0.8371311,0.001468374,0.001296626,0.06513642],"study_design_scores_gemma":[0.00002947568,0.0003774744,0.3489709,0.0003029718,0.0005289824,0.1698729,0.0007483151,0.00787574,0.4178343,0.002782194,0.05063483,0.0000418394],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9452744,0.003719792,0.03438258,0.0006688209,0.00006793766,0.0001419126,0.00489413,0.0003902733,0.01046017],"genre_scores_gemma":[0.9733078,0.002526385,0.01946182,0.0003460713,0.00003033116,0.00004128868,0.002642434,0.00009854063,0.001545351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001103529,"threshold_uncertainty_score":0.003691673,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01413077086776922,"score_gpt":0.2473054916816813,"score_spread":0.2331747208139121,"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."}}