{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001499705,0.0001052427,0.0001304347,0.0000399543,0.0004195195,0.00001346561,0.0007409765,0.000127432,0.0001527892],"category_scores_gemma":[0.00004227808,0.00009199798,0.00006527245,0.0001662825,0.0001121367,0.000003872189,0.0006690638,0.000391349,0.00000178809],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003158154,"about_ca_system_score_gemma":0.0001054104,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000476191,"about_ca_topic_score_gemma":0.0003125382,"domain_scores_codex":[0.9992261,0.0001510568,0.0001732272,0.0001749422,0.0001225303,0.0001521694],"domain_scores_gemma":[0.9988151,0.00004674248,0.0001354388,0.0009256009,0.00004506783,0.00003205899],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000243672,0.001580214,0.837982,0.00003756582,0.0007548704,0.00002705768,0.00117855,0.0028543,0.0505693,0.1016166,0.002986766,0.0001690666],"study_design_scores_gemma":[0.0009575653,0.0007378039,0.7725607,0.000009790877,0.0001070209,0.0001914561,0.001403274,0.00007031718,0.003236951,0.002213219,0.2180505,0.000461363],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9850061,0.00662466,0.0001903446,0.005225523,0.0000633884,0.0002033607,0.0004322105,0.00001944761,0.002234987],"genre_scores_gemma":[0.9960751,0.0003344526,0.001457241,0.0002546671,0.00002073754,0.00007596449,0.001184094,0.00001479469,0.0005829579],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2150638,"threshold_uncertainty_score":0.3751568,"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."}}