{"id":"W1998507915","doi":"10.1007/s00439-014-1513-6","title":"Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes","year":2014,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":false,"ca_institutions":"Memorial University of Newfoundland; Public Health Ontario; University of Toronto; McMaster University; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Canadian Institutes of Health Research; Wellcome Trust; Hospital for Sick Children; National Institute of Mental Health; University of Toronto","keywords":"Pedigree chart; Copy-number variation; Genetics; Autism spectrum disorder; Biology; Candidate gene; Human genetics; Autism; Heritability of autism; Genetic linkage; Locus (genetics); Gene; Phenotype; Genome; Psychology; Developmental psychology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001225141,0.0002082593,0.0001596865,0.00006743764,0.0002778586,0.00008676691,0.0002732482,0.0001178019,0.00009201281],"category_scores_gemma":[0.00001114783,0.0002182016,0.00008154779,0.00007384922,0.00005727295,0.000003881858,0.0002359488,0.00005904212,0.00002692973],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002053411,"about_ca_system_score_gemma":0.00005054194,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001613443,"about_ca_topic_score_gemma":0.000627734,"domain_scores_codex":[0.9988028,0.00003737153,0.0002703592,0.0003837023,0.0001438166,0.000361886],"domain_scores_gemma":[0.9992664,0.00000398651,0.00008418666,0.0004802134,0.00003813948,0.0001270641],"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":[0.00001353874,0.0001000937,0.01328114,0.00002770922,0.00006661161,0.000001419177,0.0002536532,0.00340626,0.9770446,0.004809836,0.0003211383,0.0006740501],"study_design_scores_gemma":[0.002446958,0.001154542,0.3901927,0.00005291606,0.0002353661,0.0001323532,0.0005619464,0.002964946,0.3888376,0.004484484,0.2070109,0.001925268],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.965811,0.0004791083,0.03240572,0.0001255246,0.0002569702,0.0001619285,0.00004440541,0.00001911823,0.0006961856],"genre_scores_gemma":[0.9913017,0.00006417467,0.006249945,0.0002109147,0.0005249087,0.00001321536,0.0001069001,0.00004189833,0.001486316],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5882069,"threshold_uncertainty_score":0.8898004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02202059717862974,"score_gpt":0.2933288631140626,"score_spread":0.2713082659354329,"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."}}