{"id":"W2077908334","doi":"10.1136/jmedgenet-2015-103027","title":"Loss-of-function de novo mutations play an important role in severe human neural tube defects","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Core Research for Evolutional Science and Technology; Canadian Institutes of Health Research","keywords":"Anencephaly; Neural tube; Biology; Genetics; Loss function; Exome sequencing; Missense mutation; Mutation; Gene; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004720302,0.00008535563,0.0001424157,0.00006220898,0.00002419318,0.00001188561,0.0002068918,0.0001628903,0.0000213741],"category_scores_gemma":[0.0002116749,0.00007248149,0.00008171429,0.00006210586,0.00006731893,0.00000399782,0.00004840359,0.0001498037,5.439624e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001964669,"about_ca_system_score_gemma":0.0005100039,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001214527,"about_ca_topic_score_gemma":0.00008822775,"domain_scores_codex":[0.9988792,0.00006980968,0.0004254454,0.0001019472,0.0003689501,0.0001546599],"domain_scores_gemma":[0.9991171,0.00001007393,0.0001943919,0.0001272295,0.0001614944,0.0003897013],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006241617,0.001447494,0.6140707,0.00006485975,0.0002137131,0.0009958551,0.001070811,0.01561564,0.3557492,0.0001990681,0.001651322,0.008297196],"study_design_scores_gemma":[0.02138769,0.01911118,0.7648703,0.0003490744,0.0007810957,0.01059383,0.006527936,0.0126688,0.119077,0.01386235,0.02912972,0.001641067],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971821,0.002124863,0.0002873205,0.000112442,0.0001820111,0.00004518071,0.000009053004,0.000001426635,0.00005557909],"genre_scores_gemma":[0.9987799,0.0002125589,0.0003963627,0.0001879163,0.0003656296,0.000001110909,0.00003266016,0.00001205096,0.0000118455],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2366723,"threshold_uncertainty_score":0.2955709,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01572985949762512,"score_gpt":0.291223520256044,"score_spread":0.2754936607584189,"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."}}