{"id":"W3188394932","doi":"10.1111/nyas.14658","title":"Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report","year":2021,"lang":"en","type":"review","venue":"Annals of the New York Academy of Sciences","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institutes of Health","keywords":"Autism; DECIPHER; Schizophrenia (object-oriented programming); Autism spectrum disorder; Phenotype; Genetic heterogeneity; Neuroscience; Biology; Bioinformatics; Medicine; Genetics; Psychiatry; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.002744605,0.001057421,0.001090095,0.002472898,0.0004113317,0.001813696,0.001355646,0.002417682,0.005365436],"category_scores_gemma":[0.00353194,0.0003311394,0.0007692922,0.001806953,0.001007427,0.003327102,0.002032236,0.005402471,0.002808588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001362585,"about_ca_system_score_gemma":0.001881164,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008029557,"about_ca_topic_score_gemma":0.001379714,"domain_scores_codex":[0.9993531,0.0001407264,0.00007651439,0.000104354,0.0002177739,0.0001075785],"domain_scores_gemma":[0.9980605,0.0009293178,0.0001238989,0.00006322157,0.0005113337,0.0003116904],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001315931,0.00006029695,0.0001666287,0.004728341,0.00008401219,0.0003334912,0.00005172427,0.0002570082,0.000863048,0.009853041,0.4504835,0.5329874],"study_design_scores_gemma":[0.00001689545,0.00004870367,0.0003430026,0.002043186,0.00004706129,0.0005731315,0.00002646059,0.0000559154,0.0001551013,0.001976284,0.9947023,0.0000119835],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001231411,0.9657753,0.0003639302,0.008841405,0.02221871,0.00001623291,0.00004735975,0.00003483026,0.002579155],"genre_scores_gemma":[0.001284736,0.9701555,0.0006638773,0.008044262,0.0165289,0.00002428205,0.0001038786,0.00001451227,0.003179929],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005365436,"threshold_uncertainty_score":0.01794916,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08647626698727257,"score_gpt":0.3887232517561275,"score_spread":0.302246984768855,"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."}}