{"id":"W2801525896","doi":"10.1038/gim.2018.8","title":"Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly","year":2018,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":136,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health; University of Chicago","keywords":"Lissencephaly; Gene; Mutation; Genetics; Biology; Computational biology; Medicine; Bioinformatics","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":[0.0003433568,0.000897787,0.0005617092,0.001987396,0.0007348217,0.000583328,0.0005942188,0.000982051,0.004355358],"category_scores_gemma":[0.002356659,0.0003480397,0.0004146613,0.001188093,0.0007199997,0.0003760199,0.0004127617,0.0003392271,0.001120889],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002833231,"about_ca_system_score_gemma":0.000274689,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001353226,"about_ca_topic_score_gemma":0.001252691,"domain_scores_codex":[0.9992756,0.00007055276,0.00009195227,0.0001746746,0.000255499,0.0001317147],"domain_scores_gemma":[0.9986941,0.0006431541,0.0003105396,0.00007512586,0.0001322124,0.0001448687],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005186289,0.00008340413,0.9355264,0.00004596114,0.00007519,0.01372169,0.0005894275,0.0002430603,0.03808348,0.0001098691,0.0006089789,0.01039383],"study_design_scores_gemma":[0.00003656125,0.0002558161,0.9333217,0.00003506771,0.0001376986,0.0479329,0.0006039463,0.0004037719,0.01477954,0.0001352509,0.002334878,0.00002284813],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984665,0.0002344903,0.0001143254,0.00005070623,0.000007713426,0.000003856454,0.0003166901,0.00001607129,0.0007896922],"genre_scores_gemma":[0.9987506,0.0001490941,0.0002015441,0.00005535859,0.000009985317,0.000008892032,0.0003792488,0.00001494889,0.0004304198],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004355358,"threshold_uncertainty_score":0.01457018,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01664571726576086,"score_gpt":0.2808787598391974,"score_spread":0.2642330425734365,"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."}}