{"id":"W1495338768","doi":"10.1007/s00439-002-0871-7","title":"Patterns of associations of clinical features in neurofibromatosis 1 (NF1)","year":2002,"lang":"en","type":"article","venue":"Human Genetics","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":46,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; Dalhousie University","funders":"","keywords":"Intertriginous; Neurofibromatosis; Penetrance; Macrocephaly; Proband; Biology; Population; Disease; Pathology; Dermatology; Genetics; Medicine; Phenotype","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":[0.0007769357,0.0004024559,0.0003938426,0.003568967,0.0007748776,0.0006201976,0.0005244456,0.0006414622,0.004081907],"category_scores_gemma":[0.005835721,0.0002624739,0.0002932987,0.002160869,0.001030415,0.0006537395,0.0008146337,0.0004087392,0.0006381889],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002761695,"about_ca_system_score_gemma":0.0003648978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001863607,"about_ca_topic_score_gemma":0.002019612,"domain_scores_codex":[0.9986866,0.0004171302,0.0002135847,0.0002101523,0.0002525613,0.0002200599],"domain_scores_gemma":[0.9950448,0.001935246,0.001626697,0.0002446583,0.0006199287,0.0005286525],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008971557,0.00008523055,0.9549805,0.00008364121,0.00009006717,0.01165929,0.0008216656,0.0001718651,0.02183292,0.0003603178,0.0004755066,0.008541686],"study_design_scores_gemma":[0.00002754224,0.0001785971,0.9357055,0.00003029163,0.00006618277,0.05920732,0.001186076,0.000292109,0.00180745,0.0004560444,0.001022422,0.00002052968],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952251,0.0008134688,0.0002519241,0.0001250554,0.000008478076,0.00001568312,0.0002336029,0.00001416902,0.003312658],"genre_scores_gemma":[0.9989513,0.000219055,0.0002730635,0.00003365226,0.00001107308,0.00001057532,0.000170215,0.000009185867,0.0003218635],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004081907,"threshold_uncertainty_score":0.0136553,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.103547103356348,"score_gpt":0.3581309572775876,"score_spread":0.2545838539212397,"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."}}