{"id":"W3154130619","doi":"10.24908/iqurcp.10713","title":"25. Identification of De novo, Deleterious Mutations through Exome Sequencing of Sporadic Autism Spectrum Disorder Trios","year":2018,"lang":"en","type":"article","venue":"Inquiry Queen s Undergraduate Research Conference Proceedings","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Exome sequencing; Genetics; Sanger sequencing; Autism spectrum disorder; Single-nucleotide polymorphism; Biology; Neurodevelopmental disorder; Candidate gene; Exome; Massive parallel sequencing; Mutation; Genetic heterogeneity; Gene; Autism; DNA sequencing; Medicine; Genotype; Phenotype; Psychiatry","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007977844,0.0002269421,0.0003063736,0.001067364,0.0005021869,0.0008037461,0.0002589718,0.0005032379,0.005384867],"category_scores_gemma":[0.001221139,0.0001487556,0.0004162244,0.0004606312,0.0002430254,0.0001528868,0.0003799277,0.0002827761,0.002051055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003123805,"about_ca_system_score_gemma":0.0004131239,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002715845,"about_ca_topic_score_gemma":0.008588177,"domain_scores_codex":[0.9995379,0.00006349729,0.00005654761,0.000126086,0.000161846,0.00005410161],"domain_scores_gemma":[0.9994171,0.0002136555,0.00008678365,0.00007006479,0.000131921,0.00008060417],"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":[0.0006780401,0.0002158802,0.1026551,0.0006433153,0.0002460273,0.01384269,0.001368004,0.0009783966,0.6898704,0.002320161,0.02422932,0.1629527],"study_design_scores_gemma":[0.0001993569,0.0009702914,0.5509472,0.000198397,0.0003736515,0.03105873,0.0008689117,0.004969207,0.2563212,0.002840825,0.1511443,0.0001079081],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9083167,0.003926293,0.04266931,0.002030716,0.0004587244,0.0007537857,0.01289639,0.001252759,0.02769535],"genre_scores_gemma":[0.8694822,0.003119961,0.07560923,0.001863996,0.00009783216,0.000545778,0.01901771,0.0002847585,0.02997854],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005384867,"threshold_uncertainty_score":0.01801413,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1210937071889273,"score_gpt":0.3892500697766877,"score_spread":0.2681563625877604,"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."}}