{"id":"W3158746117","doi":"10.3390/jpm11050365","title":"Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses","year":2021,"lang":"en","type":"article","venue":"Journal of Personalized Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institute of Mental Health; Regeneron Pharmaceuticals","keywords":"Medicine; Population; Health care; Cohort; Grounded theory; Etiology; Genetic testing; Psychiatry; Inclusion (mineral); Exome sequencing; Intellectual disability; Clinical psychology; Psychology; Qualitative research; Genetics; Pathology","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":[0.007625944,0.0002218634,0.0001896926,0.0003080575,0.001241946,0.0009605285,0.0002772963,0.0004166779,0.001858208],"category_scores_gemma":[0.01629324,0.0001163477,0.0001565469,0.0001862398,0.001029701,0.0005589605,0.001690134,0.0005668182,0.0002418827],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004998063,"about_ca_system_score_gemma":0.0008367905,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001015173,"about_ca_topic_score_gemma":0.002468745,"domain_scores_codex":[0.9929093,0.00567701,0.0001544132,0.0003435397,0.0006242204,0.0002914245],"domain_scores_gemma":[0.990501,0.006779162,0.000995689,0.0004954347,0.0008273549,0.0004012018],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"observational","study_design_scores_codex":[0.0003984046,0.0008311039,0.3334083,0.0004678764,0.00008724188,0.00149876,0.4991282,0.000271657,0.01689452,0.0008592066,0.00223,0.1439248],"study_design_scores_gemma":[0.00006337318,0.002308992,0.283664,0.0003282551,0.0001010742,0.001946301,0.6780846,0.0007926896,0.009798162,0.002937267,0.0198558,0.0001194553],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949161,0.00006316692,0.001330863,0.0005688901,0.00001712296,0.0001105229,0.00005798358,0.00001426932,0.002921179],"genre_scores_gemma":[0.9965438,0.0001258224,0.002060933,0.0003488291,0.000008840459,0.0001678967,0.00003745502,0.000005630528,0.0007008221],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007625944,"threshold_uncertainty_score":0.04033029,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03003813917078575,"score_gpt":0.2870617194351971,"score_spread":0.2570235802644114,"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."}}