{"id":"W6991055183","doi":"","title":"Exome Sequencing in Brown-Vialetto-Van Laere Syndrome Response","year":2010,"lang":"en","type":"article","venue":"","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Institute of Population and Public Health","funders":"","keywords":"Exome sequencing; Mutation; Exome; Paralysis; DNA sequencing","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":[0.0003871071,0.0013586,0.0005360556,0.001582845,0.0009587498,0.0007801199,0.0008010311,0.002981386,0.007074177],"category_scores_gemma":[0.002930685,0.0002266512,0.0005432915,0.0007348704,0.0007644785,0.000404968,0.0006425657,0.001026993,0.0008264041],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004926139,"about_ca_system_score_gemma":0.000393013,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002867956,"about_ca_topic_score_gemma":0.001938543,"domain_scores_codex":[0.9994186,0.0001016635,0.00006336909,0.0001714821,0.0001307474,0.0001141728],"domain_scores_gemma":[0.9986098,0.0008619159,0.0001439843,0.00005254259,0.0001156907,0.0002159563],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.001150798,0.0001685064,0.03313874,0.0001817901,0.0002093549,0.8201515,0.0008487611,0.001088495,0.1127107,0.002670044,0.00618367,0.02149761],"study_design_scores_gemma":[0.0002534925,0.0004049018,0.08921932,0.0001847181,0.0003217635,0.8447709,0.0007439394,0.005087145,0.0419076,0.002541062,0.01448584,0.00007924761],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9805505,0.001195221,0.002893036,0.00390754,0.0003200386,0.00008988293,0.001406117,0.000233377,0.009404198],"genre_scores_gemma":[0.9943529,0.0002100272,0.001165439,0.0008516432,0.0001170524,0.00002495114,0.0003340457,0.00007481106,0.002869168],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007074177,"threshold_uncertainty_score":0.02366549,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007264796395093473,"score_gpt":0.2343084602114344,"score_spread":0.2270436638163409,"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."}}