{"id":"W4301630446","doi":"","title":"Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination?","year":2001,"lang":"en","type":"preprint","venue":"HAL (Le Centre pour la Communication Scientifique Directe)","topic":"Neuroblastoma Research and Treatments","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval","funders":"","keywords":"Genetics; DNA sequencing; Mutation; Gene; Biology; Medicine; Computational biology","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":[0.01176812,0.00117541,0.00447369,0.002426494,0.0005389117,0.001558016,0.001721378,0.002414267,0.001698476],"category_scores_gemma":[0.02512836,0.0007492633,0.0007731594,0.001450906,0.001584077,0.002560062,0.0006588569,0.001960255,0.001155547],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006203552,"about_ca_system_score_gemma":0.001190297,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003190337,"about_ca_topic_score_gemma":0.004631388,"domain_scores_codex":[0.9960168,0.001802622,0.0003035369,0.000546005,0.001014447,0.0003165485],"domain_scores_gemma":[0.9802171,0.01447152,0.0007731577,0.001217496,0.001975683,0.00134492],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.01138607,0.0007142748,0.4649864,0.001238506,0.0005016903,0.003734845,0.0006197701,0.002823579,0.0407756,0.00135017,0.008847648,0.4630215],"study_design_scores_gemma":[0.00199765,0.01114758,0.7418287,0.001696951,0.00391602,0.0516444,0.002732691,0.03113315,0.09011237,0.01442078,0.04886124,0.0005084357],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7952324,0.1264162,0.04481461,0.01895805,0.001785633,0.0002611961,0.0005773334,0.0009532913,0.0110012],"genre_scores_gemma":[0.9130669,0.03853484,0.03857628,0.003316707,0.002648707,0.0001357835,0.0005185505,0.0001789083,0.003023526],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01176812,"threshold_uncertainty_score":0.06223649,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02106714201120267,"score_gpt":0.2734182710752283,"score_spread":0.2523511290640256,"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."}}