{"id":"W2559834900","doi":"10.1186/s13223-016-0169-2","title":"Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand","year":2016,"lang":"en","type":"article","venue":"Allergy Asthma and Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Auckland District Health Board","keywords":"Primary immunodeficiency; Medical diagnosis; Medicine; Genetic testing; Pediatrics; Genetic heterogeneity; Population; Immunodeficiency; Genetic counseling; Locus (genetics); Immunology; Internal medicine; Immune system; Genetics; Pathology; Biology; Gene; Phenotype","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001067652,0.0006456237,0.0003388305,0.0005050623,0.001195468,0.0009202102,0.0008609343,0.000629559,0.002693273],"category_scores_gemma":[0.003799354,0.0005054409,0.0002838577,0.001129697,0.001538425,0.0006516451,0.001652568,0.0009138362,0.0004210839],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004921429,"about_ca_system_score_gemma":0.006391342,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2251642,"about_ca_topic_score_gemma":0.2846935,"domain_scores_codex":[0.998553,0.0002312799,0.0001892081,0.0002847228,0.0003458839,0.0003959365],"domain_scores_gemma":[0.994873,0.0004223838,0.0008605958,0.0001602913,0.0005473937,0.003136284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001885923,0.0007706919,0.9058414,0.0002124939,0.00006053211,0.02605534,0.01066783,0.0003150078,0.004216898,0.0001096766,0.003003162,0.04855844],"study_design_scores_gemma":[0.00007349527,0.001319844,0.9599718,0.0002299025,0.00003835643,0.02399465,0.009279968,0.0003421087,0.0004399249,0.00007211858,0.004190767,0.00004693203],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939126,0.001264824,0.0002475425,0.0008010113,0.0000331128,0.0001253954,0.0001333255,0.00002439444,0.003457753],"genre_scores_gemma":[0.995852,0.001574068,0.0008219876,0.0004536175,0.00002620268,0.00003583719,0.0001559009,0.00001585472,0.00106453],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2251642,"threshold_uncertainty_score":0.4477072,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01528050336471277,"score_gpt":0.2748184526156353,"score_spread":0.2595379492509226,"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."}}