{"id":"W3012868777","doi":"10.1101/2020.03.18.20038505","title":"The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; HEC Montréal; McGill University; Montreal Neurological Institute and Hospital; Institut Universitaire en Santé Mentale de Québec; Université de Montréal; Institut Universitaire de Gériatrie de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research; Canada First Research Excellence Fund; Compute Canada; Centre Hospitalier Universitaire Vaudois; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Health and Care Research Wales; Wellcome Trust; Fondation Brain Canada","keywords":"Haploinsufficiency; Copy-number variation; Schizophrenia (object-oriented programming); Autism; Autism spectrum disorder; Endophenotype; Psychology; Psychiatry; Neuroscience; Cognition; Genetics; Biology; Gene; Phenotype; Genome","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":[0.0004108429,0.0003196476,0.000246069,0.0006247221,0.0002211868,0.0002276379,0.0002018175,0.0002601944,0.001911533],"category_scores_gemma":[0.001297116,0.0001119501,0.0002244341,0.0003358531,0.000544338,0.0001773974,0.0002669974,0.0002584341,0.00005318877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001204296,"about_ca_system_score_gemma":0.00009817426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00105391,"about_ca_topic_score_gemma":0.001634826,"domain_scores_codex":[0.9996439,0.00009697845,0.00003525002,0.0001338952,0.00005212084,0.00003779114],"domain_scores_gemma":[0.9988494,0.0006117497,0.0003118138,0.0000996461,0.0000391638,0.00008814653],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007897235,0.00006565736,0.6422144,0.00004734542,0.000532312,0.00149477,0.0002299415,0.001003568,0.3457852,0.0004133355,0.0001202143,0.007303613],"study_design_scores_gemma":[0.000008723492,0.0001272181,0.9934958,0.000003530611,0.00005937601,0.0009128744,0.0000440927,0.000834533,0.004219082,0.0002023726,0.00008786141,0.000004490581],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993767,0.00005280863,0.0003051386,0.00001535208,9.016782e-7,0.00000222105,0.00009419303,0.000005374007,0.0001472342],"genre_scores_gemma":[0.9997348,0.00001477538,0.000135574,0.000006833568,0.000001690617,0.000002514941,0.00006606104,0.000002367506,0.00003545278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001911533,"threshold_uncertainty_score":0.006394684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0113126431605662,"score_gpt":0.2709019404501093,"score_spread":0.2595892972895431,"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."}}