{"id":"W2971241211","doi":"10.1503/jpn.180184","title":"Truncating variant burden in high-functioning autism and pleiotropic effects of <i>LRP1</i> across psychiatric phenotypes","year":2019,"lang":"en","type":"article","venue":"Journal of Psychiatry and Neuroscience","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Autism; Genetics; Exome sequencing; Autism spectrum disorder; Genome-wide association study; Schizophrenia (object-oriented programming); Biology; Gene; Phenotype; Psychology; Psychiatry; Single-nucleotide polymorphism; Genotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001654712,0.0000897509,0.0001526898,0.00005716164,0.00007401634,0.0000294887,0.0001246902,0.0000504686,0.000001171894],"category_scores_gemma":[0.00005080149,0.00007405903,0.00004467228,0.0001311292,0.0000657722,0.00001449805,0.00006065777,0.0001015852,2.294289e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003055837,"about_ca_system_score_gemma":0.00008763353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000192292,"about_ca_topic_score_gemma":0.0000102514,"domain_scores_codex":[0.9992531,0.00003971078,0.0002573504,0.0001950572,0.0001045356,0.000150242],"domain_scores_gemma":[0.9995262,0.00001930045,0.0002491942,0.0001090593,0.00002620064,0.00007005533],"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":[0.0001681905,0.0001361942,0.2668268,0.0002458998,0.00001225858,0.00001375601,0.0001483849,0.0006471951,0.7292102,0.001039153,0.00006261461,0.001489355],"study_design_scores_gemma":[0.00179853,0.001567664,0.9892957,0.0001175795,0.00003118185,0.0003240391,0.0001459696,0.0002204304,0.004698721,0.00111536,0.0005088516,0.0001759636],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944434,0.003190208,0.000221805,0.000288965,0.001751295,0.00007584952,0.000004192927,0.000001260497,0.00002308695],"genre_scores_gemma":[0.9981087,0.0006484548,0.0008667192,0.0001890807,0.0001441972,7.064471e-7,5.999066e-7,0.000006516967,0.00003502782],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7245114,"threshold_uncertainty_score":0.302004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003385266831470323,"score_gpt":0.2233379774886409,"score_spread":0.2199527106571705,"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."}}