{"id":"W2086505211","doi":"10.3791/2534","title":"A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia","year":2011,"lang":"en","type":"article","venue":"Journal of Visualized Experiments","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"Université de Montréal; Génome Québec; Genome Canada","keywords":"Autism; Genetics; Biology; Mutation rate; Population; Mutation; Schizophrenia (object-oriented programming); Allele; Heritability of autism; Concordance; Phenotype; Gene; Medicine; Psychiatry","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":[0.0003756736,0.000165871,0.00029631,0.0005464512,0.0001273337,0.0001086666,0.000402169,0.00007192393,0.0002851925],"category_scores_gemma":[0.0001876808,0.000160064,0.0000677337,0.0005031289,0.0001211727,0.0004419555,0.0001346105,0.0003358251,0.00005364463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001243832,"about_ca_system_score_gemma":0.0001834614,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004448531,"about_ca_topic_score_gemma":0.00009933014,"domain_scores_codex":[0.9979042,0.0003282885,0.0005543301,0.0002522829,0.0005202646,0.0004406043],"domain_scores_gemma":[0.9992058,0.00009545869,0.000216747,0.0001714644,0.00001336817,0.0002972091],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001831334,0.001719111,0.0150248,0.00002319417,0.00003913714,0.0005956769,0.02392087,0.00003029954,0.8982472,0.05420921,0.00006860039,0.004290604],"study_design_scores_gemma":[0.008756551,0.002302571,0.2066271,0.0001710728,0.00002333134,0.0005686182,0.002147643,0.0003142357,0.6593549,0.1190855,0.0001660605,0.000482277],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966539,0.0002433051,0.000398035,0.0004879618,0.0001115291,0.0002882863,0.000003231184,0.00001724169,0.001796503],"genre_scores_gemma":[0.998518,0.000138086,0.001011918,0.0001915469,0.00001281499,0.00002144649,4.282319e-7,0.00002828453,0.00007743476],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2388922,"threshold_uncertainty_score":0.6527219,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07436929017902492,"score_gpt":0.4752848607303806,"score_spread":0.4009155705513556,"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."}}