{"id":"W4402838373","doi":"10.1016/j.gim.2024.101282","title":"Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Genome Canada","funders":"College of Medicine, Drexel University; Mohammed Bin Rashid University of Medicine and Health Sciences; Al Jalila Foundation","keywords":"Medicine; Genetics; Cohort; Intellectual disability; Pediatrics; Biology; Internal medicine","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":[0.0004323155,0.0003908143,0.0003501035,0.0007897647,0.0005765769,0.0005361448,0.0003050324,0.0002811688,0.001490894],"category_scores_gemma":[0.001206774,0.0001718346,0.0002691577,0.0007140015,0.0003447582,0.0002356803,0.0008854396,0.0003563311,0.0002367871],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002289498,"about_ca_system_score_gemma":0.0002747725,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005242598,"about_ca_topic_score_gemma":0.007755185,"domain_scores_codex":[0.9996948,0.00004721984,0.00002931558,0.0001405733,0.00004846144,0.00003955609],"domain_scores_gemma":[0.9995378,0.00008061823,0.0001129357,0.00009540256,0.00005499547,0.0001181676],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002515515,0.00003801469,0.9877995,0.00001714826,0.0001110567,0.001300601,0.0004378656,0.0001032269,0.006227858,0.0001018392,0.0002579743,0.003353303],"study_design_scores_gemma":[0.00001596097,0.0001159566,0.9950365,0.00001016963,0.00006200267,0.002579849,0.0003879345,0.0002804506,0.0006399974,0.0001411805,0.0007210639,0.000008869668],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990362,0.00007801787,0.0001465428,0.00001839903,0.000002413063,0.000004890596,0.0005641395,0.000002554726,0.0001469594],"genre_scores_gemma":[0.9983505,0.00008531439,0.0002225774,0.00002522749,0.000004056524,0.000007884321,0.00114003,0.000004546463,0.0001599665],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005242598,"threshold_uncertainty_score":0.01042414,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005623108636852844,"score_gpt":0.2326133417017998,"score_spread":0.226990233064947,"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."}}