{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002671783,0.00008921707,0.0001620399,0.0001003056,0.00005303787,0.000005400866,0.0002353535,0.00006388051,0.00002892997],"category_scores_gemma":[0.00006551985,0.00008341364,0.00005392693,0.0002535511,0.00006510557,0.000001993846,0.0002135319,0.0001011581,2.856015e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002677949,"about_ca_system_score_gemma":0.00005371703,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003439244,"about_ca_topic_score_gemma":0.00002161868,"domain_scores_codex":[0.9989953,0.0001405751,0.0003366991,0.0001973457,0.0001746719,0.0001554082],"domain_scores_gemma":[0.9994997,0.000009925359,0.0001487967,0.0002899822,0.0000327094,0.0000188422],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002233633,0.0001902554,0.9308374,0.00003397258,0.00004640628,0.000001098422,0.0005592949,0.02381828,0.03410579,0.0003026798,0.0007912525,0.009291237],"study_design_scores_gemma":[0.0006285788,0.000479473,0.9853626,0.00001592207,0.00002827975,0.00002111778,0.002150956,0.002519583,0.004247344,0.001891235,0.002483085,0.0001717659],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926155,0.002512361,0.004046053,0.0001016255,0.0004016776,0.0002113969,0.00001657713,0.000002036192,0.00009277931],"genre_scores_gemma":[0.9845185,0.0001701565,0.0151499,0.00002451095,0.00001929121,0.00001752782,0.00003143278,0.00001198729,0.00005673762],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05452527,"threshold_uncertainty_score":0.340151,"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."}}