{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00006107513,0.0002277438,0.000147779,0.00005442414,0.0003107908,0.0001150998,0.000172512,0.0003730639,0.00001837289],"category_scores_gemma":[0.00002907979,0.0002485977,0.00006067897,0.00001447366,0.0001107669,0.000003258031,0.0001015112,0.0002927371,0.00002352677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001340152,"about_ca_system_score_gemma":0.00002701617,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004468033,"about_ca_topic_score_gemma":0.00004353877,"domain_scores_codex":[0.9989504,0.00005651119,0.0001790933,0.0004590016,0.0001385829,0.0002164653],"domain_scores_gemma":[0.9993394,0.000006341853,0.0002368917,0.0003486933,0.00003108364,0.00003761571],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001015402,0.00004526439,0.0004783568,0.0001106437,0.0001016614,0.000145076,0.0001793054,0.00001355832,0.2787136,0.00001430333,0.7130809,0.007107241],"study_design_scores_gemma":[0.001140911,0.0006866701,0.1268964,0.00009414032,0.0001854864,0.00009765634,0.00003806552,0.00003796871,0.01597641,0.003210673,0.850549,0.001086594],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.976512,0.0006228576,0.00008555473,0.01978312,0.0004124042,0.0003125634,0.00009534013,0.00002069192,0.002155445],"genre_scores_gemma":[0.947437,0.0002303033,0.0002875017,0.04438046,0.0003547581,0.00001867992,0.003252111,0.00008433106,0.003954894],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2627372,"threshold_uncertainty_score":0.9999966,"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."}}