{"id":"W4309899484","doi":"10.3389/fgene.2022.1041943","title":"Do the diverse phenotypes of Prader-Willi syndrome reflect extremes of covariation in typical populations?","year":2022,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"Common Fund; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institute of Mental Health; Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada; NIH Office of the Director; Natural Sciences and Engineering Research Council of Canada; National Cancer Institute; National Institutes of Health; National Institute on Drug Abuse; Simon Fraser University; University of Alberta","keywords":"Phenotype; Biology; Autism; Autism spectrum disorder; Mood; Cognition; Phenotypic trait; Genetics; Genomic imprinting; Psychology; Gene; Developmental psychology; Neuroscience; Clinical psychology; DNA methylation","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":[0.0009754075,0.0002321789,0.0004972012,0.001141519,0.000325846,0.0004428188,0.0004372669,0.0002944095,0.001062295],"category_scores_gemma":[0.005181627,0.0002232777,0.0002670542,0.0009593917,0.001144983,0.0005497707,0.0007920438,0.0002859448,0.0001062699],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001609093,"about_ca_system_score_gemma":0.0002405151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001239677,"about_ca_topic_score_gemma":0.002472273,"domain_scores_codex":[0.9986425,0.0003961295,0.0001377752,0.0005141612,0.0002157845,0.0000936291],"domain_scores_gemma":[0.9980884,0.0006617935,0.0006799749,0.0003422186,0.0001057206,0.0001217779],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001783124,0.00002440671,0.9631738,0.00004731545,0.0002655905,0.001020351,0.001518559,0.000192026,0.01467878,0.0008042331,0.0001221515,0.01797444],"study_design_scores_gemma":[0.000003982526,0.00006385706,0.9954116,0.000006099326,0.00002756721,0.002117878,0.0004019077,0.0001514506,0.0006114253,0.0009286829,0.0002652206,0.00001032465],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978523,0.00025537,0.001310456,0.00007102943,0.000002713455,0.000005933799,0.0001700923,0.000008742031,0.0003233861],"genre_scores_gemma":[0.9990587,0.0001269129,0.0006079783,0.0000266861,0.000007940807,0.000008140561,0.0001178603,0.000004618018,0.0000410454],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001239677,"threshold_uncertainty_score":0.005158484,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02794259510006615,"score_gpt":0.2690863082636271,"score_spread":0.241143713163561,"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."}}