{"id":"W2909286381","doi":"10.1002/ajmg.a.61033","title":"Cornelia de Lange syndrome in diverse populations","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Tumors and Oncological Cases","field":"Medicine","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute; National Institutes of Health; National Human Genome Research Institute; National Institute of Child Health and Human Development; Thailand Research Fund","keywords":"Cornelia de Lange Syndrome; Evolutionary biology; Biology; Genetics","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0004559988,0.00007321018,0.000369964,0.00008837137,0.00001249149,0.000005781183,0.0001294073,0.00005566219,0.001153849],"category_scores_gemma":[0.0003068879,0.00005232933,0.00009015572,0.0002113273,0.000148289,0.00001682259,0.00003834802,0.000340722,0.00005209189],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000654012,"about_ca_system_score_gemma":0.0002418608,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005390271,"about_ca_topic_score_gemma":0.00002284317,"domain_scores_codex":[0.9987023,0.00006925625,0.000351497,0.00008636967,0.0005904044,0.000200115],"domain_scores_gemma":[0.9991455,0.00009745291,0.0001732212,0.000106862,0.00005632428,0.0004206557],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001226757,0.0002370728,0.9696574,0.0000130619,0.00001249389,0.003815162,0.0001476747,0.00005831946,0.00005881064,0.00008711529,0.002053917,0.02373632],"study_design_scores_gemma":[0.001313272,0.002995728,0.9776971,0.0001875684,0.00005237977,0.004155161,0.0006068076,0.0004421554,0.000009920738,0.000121825,0.01234362,0.00007447362],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996268,0.0003818063,0.0001075198,0.00259923,0.0002227128,0.00007588101,0.000002685696,0.00000551077,0.0003366266],"genre_scores_gemma":[0.9963496,0.0002999674,0.0013888,0.001658304,0.0001524621,0.000001215746,0.000002132563,0.000007807537,0.0001397515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02366184,"threshold_uncertainty_score":0.9997593,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0472163919127398,"score_gpt":0.3451248295508026,"score_spread":0.2979084376380629,"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."}}