{"id":"W4307842916","doi":"10.1038/s41467-022-34112-z","title":"Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder","year":2022,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; Holland Bloorview Kids Rehabilitation Hospital; SickKids Foundation; University of Toronto; Ontario Genomics; St. John’s Health Sciences Centre; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Ontario Genomics Institute; Canada Foundation for Innovation; Government of Canada; Sick Kids Foundation; Genome Canada; Ontario Genomics; Fondation Brain Canada; Hospital for Sick Children; Ontario Brain Institute; Stiftelsen för Strategisk Forskning; Government of Ontario; University of Toronto; Autism Speaks","keywords":"Autism spectrum disorder; Proband; Autism; Genetics; Genome; Biology; Medicine; Gene; Mutation; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0005107871,0.0003875481,0.0002412891,0.001755647,0.0006735849,0.0006357133,0.0005322618,0.0003308096,0.003630406],"category_scores_gemma":[0.003320611,0.0001339033,0.0004329974,0.00128613,0.0005648117,0.000147143,0.0005887437,0.000405935,0.0002194684],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000761938,"about_ca_system_score_gemma":0.001164531,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2423291,"about_ca_topic_score_gemma":0.2565154,"domain_scores_codex":[0.9993942,0.00007433313,0.0000483097,0.0002022142,0.0002100694,0.00007099678],"domain_scores_gemma":[0.9988012,0.0002956179,0.0004136618,0.00008226545,0.000222631,0.0001845595],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001538474,0.00001431305,0.9883574,0.00001143136,0.0001190948,0.0002681977,0.0001254673,0.0004834902,0.004957644,0.0001552923,0.0003753977,0.0049785],"study_design_scores_gemma":[0.000006623503,0.00001992173,0.9977087,0.000004726107,0.00003533695,0.0006248424,0.000124309,0.0008028324,0.0003915793,0.00009398158,0.0001802383,0.000007043074],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975404,0.00007791243,0.0003718799,0.0000506139,0.000004445465,0.000007716377,0.001108469,0.00002024984,0.0008183531],"genre_scores_gemma":[0.9985138,0.00003520892,0.0004746876,0.00001121205,0.000002395485,0.000004342787,0.00073815,0.00000694386,0.0002133008],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2423291,"threshold_uncertainty_score":0.4818371,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008543699213181058,"score_gpt":0.2223019970764871,"score_spread":0.2137582978633061,"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."}}