{"id":"W2735026440","doi":"10.1002/humu.23279","title":"Postzygotic single nucleotide mosaicisms and autism risk","year":2017,"lang":"en","type":"letter","venue":"Human Mutation","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Biology; Autism; Genetics; Single-nucleotide polymorphism; Computational biology; Gene; Genotype; Developmental psychology","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":[0.0007895785,0.0002484349,0.0002300987,0.001112461,0.0003219294,0.0005602014,0.0002644223,0.0005689546,0.001850821],"category_scores_gemma":[0.004158251,0.000179337,0.0002990416,0.0007351479,0.0005490282,0.0003839107,0.0006558422,0.0007329464,0.0001437873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002460374,"about_ca_system_score_gemma":0.0001946449,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001417005,"about_ca_topic_score_gemma":0.001474713,"domain_scores_codex":[0.9991859,0.0002438293,0.0000708649,0.0002958212,0.0001331627,0.00007040737],"domain_scores_gemma":[0.9979418,0.0008677642,0.0007587405,0.0001565947,0.00009167553,0.0001833043],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004841806,0.00004362915,0.9567694,0.00008762443,0.0004410605,0.0009570207,0.000647803,0.000532678,0.007221192,0.00333696,0.0006133249,0.02886517],"study_design_scores_gemma":[0.00001056598,0.00006935687,0.9877701,0.00003378115,0.0001064649,0.003503213,0.0002010233,0.0008800607,0.0007850641,0.004878995,0.001745251,0.00001625648],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926468,0.003014963,0.002134313,0.0006536162,0.00003179922,0.000008973268,0.0002943017,0.00001843388,0.001196689],"genre_scores_gemma":[0.9972665,0.001081024,0.001024583,0.00006152775,0.00003282713,0.000007279431,0.0001826526,0.000008873182,0.0003346645],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001850821,"threshold_uncertainty_score":0.006191611,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01440131296868616,"score_gpt":0.2407303024084825,"score_spread":0.2263289894397963,"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."}}