{"id":"W2918403649","doi":"10.1007/978-1-4939-9012-2_36","title":"Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement","year":2019,"lang":"en","type":"article","venue":"Methods in molecular biology","topic":"Bone and Dental Protein Studies","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"European Organisation for Rare Diseases; DNA Genotek","keywords":"Amelogenesis imperfecta; Craniofacial; Phenotype; Biology; Bioinformatics; Genetics; Medicine; Gene; Enamel paint; Dentistry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.02151424,0.001636651,0.001196462,0.003919832,0.002520817,0.002472561,0.002517489,0.003606299,0.07638788],"category_scores_gemma":[0.03286619,0.001412743,0.001390233,0.001353853,0.001566961,0.001619887,0.004035811,0.003236335,0.03119196],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002152551,"about_ca_system_score_gemma":0.00905381,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00458869,"about_ca_topic_score_gemma":0.00428417,"domain_scores_codex":[0.9871251,0.0055598,0.00215937,0.001734833,0.00217705,0.001243884],"domain_scores_gemma":[0.9805123,0.004869126,0.001378793,0.003903624,0.007473815,0.001862337],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.01202293,0.001212768,0.0366108,0.003751486,0.0003177427,0.004477353,0.003363303,0.003345613,0.03011967,0.02481988,0.6692598,0.2106986],"study_design_scores_gemma":[0.003382389,0.001602956,0.04726429,0.00278507,0.0002134759,0.003044433,0.0009416552,0.003530604,0.02730085,0.01315021,0.8964351,0.0003488841],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"protocol","genre_gemma":"protocol","genre_scores_codex":[0.04904603,0.001951697,0.1708584,0.01767262,0.004311216,0.4927152,0.1112165,0.006877412,0.1453509],"genre_scores_gemma":[0.06279876,0.00214735,0.1867076,0.01531276,0.001570756,0.6012177,0.07455269,0.001885434,0.05380701],"genre_candidate":"protocol","genre_consensus":"protocol","teacher_disagreement_score":0.07638788,"threshold_uncertainty_score":0.2555429,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03926557072621405,"score_gpt":0.4303888270491971,"score_spread":0.391123256322983,"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."}}