{"id":"W4283377926","doi":"10.1101/2022.06.21.496616","title":"<i>De Novo</i> , Post-Zygotic, Inter-Tissue Mosaicism of Cell Autonomous <i>ADNP</i> Mutations in Autistic Individuals: Restricted Environmental Contribution","year":2022,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Natural Sciences and Engineering Research Council of Canada; Friedrich Miescher Institute for Biomedical Research","keywords":"Biology; Germline mosaicism; Mutation; Genetics; Germline mutation; Zygote; Somatic cell; Germline; Mutant; Gene; Embryogenesis","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001323263,0.0002171345,0.0001360952,0.0006276207,0.0001866905,0.0002330405,0.0001377159,0.000238169,0.001605368],"category_scores_gemma":[0.0003334904,0.0001418001,0.0001532843,0.0001905879,0.000296431,0.00008779336,0.0002549002,0.0002089329,0.0002413276],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001288267,"about_ca_system_score_gemma":0.00006497629,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007420237,"about_ca_topic_score_gemma":0.001129427,"domain_scores_codex":[0.9998393,0.0000179521,0.00001833531,0.0000609934,0.00004259028,0.00002082543],"domain_scores_gemma":[0.9998086,0.00005121343,0.0000675067,0.00001873828,0.00002178799,0.00003224724],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001893078,0.00002049493,0.04905443,0.00003558556,0.00002353855,0.007302216,0.0002752354,0.0001128894,0.9378026,0.000121473,0.00006062523,0.005001748],"study_design_scores_gemma":[0.00001108808,0.0004987593,0.6908478,0.00002177627,0.00008736263,0.1029252,0.000568691,0.001536675,0.2014672,0.0003224362,0.001683252,0.00002977812],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998253,0.00008854267,0.0009662489,0.00001219105,0.000002071207,0.000005701045,0.0001036267,0.00002873381,0.0005399405],"genre_scores_gemma":[0.9988729,0.00003979669,0.0007951251,0.000009876578,0.000001260207,0.000003157458,0.00006047282,0.0000100763,0.0002072578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001605368,"threshold_uncertainty_score":0.005370498,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004859478818672242,"score_gpt":0.2048689195252545,"score_spread":0.2000094407065823,"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."}}