{"id":"W2542774374","doi":"10.1101/083428","title":"Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder","year":2016,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Alliance for Research on Schizophrenia and Depression; Oregon Health and Science University; Simons Foundation; Alfred P. Sloan Foundation; Agence Nationale de la Recherche; Simons Foundation Autism Research Initiative; Brain and Behavior Research Foundation","keywords":"Autism; Missense mutation; Autism spectrum disorder; Genetics; Proband; Biology; Exome sequencing; Single-nucleotide polymorphism; Mutation; Bioinformatics; Gene; Medicine; Genotype; Psychiatry","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":[0.0003391172,0.0004679122,0.0003896378,0.0001069684,0.000327904,0.0001317281,0.0004428844,0.0005749005,0.000048919],"category_scores_gemma":[0.000172677,0.0004517951,0.0002829531,0.0001060513,0.0001186731,0.00001034482,0.000376434,0.0002538757,0.00004008413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001154467,"about_ca_system_score_gemma":0.0006359931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005428173,"about_ca_topic_score_gemma":0.00001875392,"domain_scores_codex":[0.9977909,0.0001050767,0.0004810999,0.0008682055,0.0001559906,0.0005986936],"domain_scores_gemma":[0.998079,0.00004271198,0.0004460914,0.001055934,0.0001997482,0.000176511],"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":[0.0001869114,0.0003938215,0.04281761,0.0005166095,0.001590192,0.00001477179,0.00002682852,0.0006751253,0.927009,0.02347117,0.003288568,0.00000942613],"study_design_scores_gemma":[0.004713848,0.0004563951,0.120248,0.0003378013,0.0008250449,1.573308e-7,0.00001611555,0.000483268,0.6469997,0.0008944751,0.2221253,0.00289991],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9168226,0.002440987,0.06761857,0.001059654,0.001323128,0.001245692,0.009340905,0.0001324316,0.0000160036],"genre_scores_gemma":[0.9953579,0.0006349112,0.002294696,0.00009358117,0.0007093663,0.0006741513,0.00002093993,0.0001145316,0.00009995918],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2800093,"threshold_uncertainty_score":0.9997934,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006394122361326153,"score_gpt":0.204928240800651,"score_spread":0.1985341184393248,"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."}}