{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003458535,0.0001120493,0.0002709161,0.00006578746,0.00008940766,0.000007428544,0.00006122777,0.00006273483,0.00003421168],"category_scores_gemma":[0.0003032009,0.00009138209,0.00009774485,0.00006656446,0.0001605539,0.000007186516,0.00003093087,0.00006497956,6.386992e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001047728,"about_ca_system_score_gemma":0.0001562038,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002466166,"about_ca_topic_score_gemma":0.00001981503,"domain_scores_codex":[0.9990121,0.000120416,0.0004453825,0.0001543964,0.0001246491,0.0001430275],"domain_scores_gemma":[0.9992604,0.00009022671,0.0003115911,0.00006545604,0.0002079373,0.00006444332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002452483,0.0001457862,0.5400263,0.0001630218,0.0005069354,0.00001126697,0.00283454,0.00007595447,0.4438041,0.0002423192,0.000394174,0.009343073],"study_design_scores_gemma":[0.002118868,0.0009733083,0.9848996,0.00006615568,0.0002259578,0.0002720552,0.005024744,0.0001701033,0.005046831,0.0004966024,0.0005830377,0.0001226719],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873856,0.007817993,0.00353887,0.0009608006,0.000120306,0.00009948418,0.00004897274,0.000001968185,0.0000260398],"genre_scores_gemma":[0.9861165,0.001243913,0.01217219,0.0001125165,0.0001651114,0.000003889088,0.000057381,0.000009396497,0.0001190555],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4448734,"threshold_uncertainty_score":0.3726453,"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."}}