{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001060496,0.0007106108,0.000396489,0.001882268,0.0004085092,0.0005692922,0.0003847206,0.0003513371,0.003481955],"category_scores_gemma":[0.004575892,0.0002720651,0.000533685,0.00120007,0.0001862899,0.0004064179,0.0006925417,0.0004445458,0.0003084833],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002140477,"about_ca_system_score_gemma":0.0004876133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003599949,"about_ca_topic_score_gemma":0.006206911,"domain_scores_codex":[0.9994829,0.0002779605,0.00003371773,0.0001028792,0.00006804436,0.00003447912],"domain_scores_gemma":[0.9982477,0.001228268,0.0001796744,0.0001391213,0.00008718236,0.0001179629],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001990007,0.000473927,0.7434644,0.0002248037,0.001290389,0.03196,0.001175314,0.02731553,0.0382661,0.005617145,0.001866984,0.1463555],"study_design_scores_gemma":[0.001149757,0.001097269,0.7604855,0.0003578425,0.00287362,0.06024602,0.00100837,0.1226853,0.01072787,0.0218207,0.01739635,0.000151435],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9639063,0.0004725837,0.03231869,0.0001591837,0.00002189967,0.00007703406,0.00115977,0.0001101311,0.001774262],"genre_scores_gemma":[0.9714579,0.000593282,0.02518266,0.00008416933,0.00001795866,0.00006486144,0.001607009,0.00003301432,0.0009590948],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003599949,"threshold_uncertainty_score":0.0116483,"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."}}