{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005626879,0.00043469,0.0004620397,0.001689884,0.0006984294,0.0006835437,0.000258255,0.000434499,0.00153623],"category_scores_gemma":[0.002550819,0.0001843045,0.0002386734,0.001174504,0.0005490172,0.0003996579,0.0008599143,0.0003016775,0.0001815742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002516864,"about_ca_system_score_gemma":0.0001387488,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003142996,"about_ca_topic_score_gemma":0.002567978,"domain_scores_codex":[0.9991831,0.0001723543,0.00008106692,0.0003463823,0.0001355848,0.00008148936],"domain_scores_gemma":[0.999442,0.0001591429,0.0001497287,0.00006769814,0.00009668565,0.00008456097],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001494843,0.00004191292,0.973523,0.00002759741,0.00009098849,0.006911868,0.001378066,0.0001390191,0.004920506,0.0002873922,0.0003549731,0.01217526],"study_design_scores_gemma":[0.00001907147,0.0002087937,0.9612819,0.00004709317,0.00008176081,0.03384974,0.001793609,0.0002240666,0.0008026132,0.0003382068,0.001331846,0.00002130618],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998005,0.0002595969,0.0002505947,0.00004928115,0.000005288894,0.00001724104,0.0001504538,0.000007740922,0.001254853],"genre_scores_gemma":[0.9992071,0.0002132152,0.000185469,0.00005155887,0.000009009343,0.00001230828,0.0001510678,0.000004036015,0.0001662849],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003142996,"threshold_uncertainty_score":0.006249368,"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."}}