{"id":"W3163626224","doi":"10.1038/s41598-021-89630-5","title":"Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec","year":2021,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"Actelion Pharmaceuticals; Fonds de Recherche du Québec - Santé; Université de Montréal","keywords":"Identification (biology); NPC1; Computational biology; Biology; Computer science; Bioinformatics; Genetics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.00088865,0.0003267957,0.0003701831,0.002521456,0.001788716,0.001167432,0.0007361269,0.0004570059,0.004719986],"category_scores_gemma":[0.002453831,0.000166114,0.000444762,0.002494029,0.000461711,0.0002245221,0.0004839672,0.000429195,0.00037286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0073273,"about_ca_system_score_gemma":0.005325351,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9372322,"about_ca_topic_score_gemma":0.9549412,"domain_scores_codex":[0.9993755,0.00005752524,0.00005386045,0.0001932835,0.0001950281,0.0001247918],"domain_scores_gemma":[0.9988294,0.0001898093,0.0002005943,0.00006608055,0.0005718576,0.0001421481],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004350941,0.00004652749,0.9376271,0.0001733312,0.0002473406,0.001922559,0.001149651,0.0008158602,0.006078098,0.0006114139,0.005224579,0.04566835],"study_design_scores_gemma":[0.00003079041,0.00006421826,0.9828006,0.0001551533,0.0001270877,0.001506419,0.0009834863,0.002975912,0.001118171,0.0001080054,0.01008471,0.00004551621],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9732396,0.002609736,0.00198115,0.00037823,0.00004096692,0.0001667945,0.01427969,0.0001036762,0.007200321],"genre_scores_gemma":[0.9861454,0.00101941,0.002002453,0.0001791303,0.000008264888,0.00004718544,0.007829533,0.00003860235,0.002730189],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0627678,"threshold_uncertainty_score":0.1262749,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009130698349024349,"score_gpt":0.2468963720351559,"score_spread":0.2377656736861315,"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."}}