{"id":"W4394996727","doi":"10.1038/s41598-024-57942-x","title":"Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder","year":2024,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"Higher Education Commision, Pakistan; Canadian Institutes of Health Research; Hospital for Sick Children; Autism Speaks","keywords":"Genetics; Biology; Sanger sequencing; Population; Genotyping; Pedigree chart; Exome sequencing; Autism spectrum disorder; Gene; Mutation; Genotype; Autism; Medicine","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":[0.0001415662,0.0004663673,0.000278491,0.001296583,0.001044702,0.0003879576,0.0002146181,0.0003662823,0.002362316],"category_scores_gemma":[0.0007200745,0.0002649649,0.000275758,0.0008021906,0.000588348,0.0001369821,0.0005229685,0.0002824237,0.000241314],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003485021,"about_ca_system_score_gemma":0.0002442678,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005585381,"about_ca_topic_score_gemma":0.006351874,"domain_scores_codex":[0.9997078,0.00002678239,0.00004612188,0.0001279287,0.00005160212,0.00003979893],"domain_scores_gemma":[0.9997806,0.00006312552,0.00007759337,0.00002124741,0.00001745497,0.0000400305],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008726475,0.0001312984,0.8480788,0.00008222683,0.0001345044,0.07752134,0.004206348,0.0003090317,0.04915925,0.0002746324,0.0006502193,0.01857972],"study_design_scores_gemma":[0.00005500855,0.0002865739,0.862348,0.0000327606,0.0001373091,0.1263552,0.001912163,0.0004343278,0.00548001,0.0002279856,0.002692646,0.00003809985],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992521,0.0001122067,0.0001310269,0.00002021231,0.00000438546,0.000009079556,0.000165472,0.00000725769,0.00029816],"genre_scores_gemma":[0.999236,0.0001386819,0.0001876915,0.00002541645,0.000003929808,0.000008073907,0.0001928323,0.000002960897,0.0002043967],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005585381,"threshold_uncertainty_score":0.01110572,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01887821452648184,"score_gpt":0.283865921132862,"score_spread":0.2649877066063802,"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."}}