{"id":"W3209613800","doi":"10.1038/s41525-021-00254-0","title":"A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder","year":2021,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health; McMaster University; Ontario Genomics; Canada Research Chairs; SickKids Foundation; Okanagan University College; University of British Columbia, Okanagan Campus; Hospital for Sick Children; University of British Columbia; BC Children's Hospital; Holland Bloorview Kids Rehabilitation Hospital; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Canadian Institutes of Health Research; Ontario Genomics Institute; Canada Foundation for Innovation; Government of Canada; National Institute of Neurological Disorders and Stroke; Verily Life Sciences; Sick Kids Foundation; Genome Canada; Ontario Genomics; Fondation Brain Canada; Hospital for Sick Children; Ontario Brain Institute; Government of Ontario; University of Toronto; Autism Speaks","keywords":"Frameshift mutation; Autism spectrum disorder; Autism; Spectrum (functional analysis); Medicine; Psychology; Genetics; Mutation; Psychiatry; Biology; Physics; Gene","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":[0.0001613117,0.0003662359,0.0002119935,0.0009351751,0.0003680536,0.0001928035,0.0002540781,0.0004030047,0.001576887],"category_scores_gemma":[0.0007055716,0.0001039407,0.0001519323,0.000573916,0.0003343665,0.00009280893,0.0002856135,0.0002205576,0.0002430022],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002241025,"about_ca_system_score_gemma":0.0001857889,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002503633,"about_ca_topic_score_gemma":0.004395119,"domain_scores_codex":[0.9998512,0.00001430519,0.00001924511,0.00005427289,0.0000430873,0.00001793544],"domain_scores_gemma":[0.9998435,0.00003983483,0.00006266701,0.00001030397,0.00001307226,0.00003051153],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001221155,0.0001495496,0.596201,0.0001507875,0.0001699019,0.1508646,0.001147645,0.0007989878,0.2028226,0.0006218987,0.001608085,0.04424393],"study_design_scores_gemma":[0.00004763977,0.0002827824,0.8276007,0.00003837104,0.0001246042,0.1515871,0.0003947832,0.001208243,0.01625825,0.0006316474,0.001790887,0.00003502644],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990662,0.0001561273,0.0001858045,0.00003682354,0.000004907507,0.000005696467,0.0001313925,0.00001845251,0.0003946453],"genre_scores_gemma":[0.9992856,0.0000724647,0.0003628595,0.00001617511,0.000005044579,0.000002143237,0.0001141864,0.00000375974,0.0001377362],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002503633,"threshold_uncertainty_score":0.005275249,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03354921251717711,"score_gpt":0.3076354187894795,"score_spread":0.2740862062723024,"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."}}