{"id":"W1985930735","doi":"10.1002/1096-8628(20000731)93:3<223::aid-ajmg13>3.0.co;2-j","title":"Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group","year":2000,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Tumors and Oncological Cases","field":"Medicine","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Complementation; Phenotype; Heterochromatin; Genetics; Biology; Somatic cell; Metaphase; Chromosome; Molecular biology; Gene","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":[0.001061369,0.001021504,0.0005840309,0.002013954,0.0004096733,0.0004340933,0.0007913407,0.000811253,0.001721886],"category_scores_gemma":[0.002043978,0.0003007617,0.0004029541,0.0005998164,0.0007604944,0.0003066053,0.001086968,0.0009171566,0.0006002906],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002446623,"about_ca_system_score_gemma":0.0002734011,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004762836,"about_ca_topic_score_gemma":0.0006963202,"domain_scores_codex":[0.9978631,0.000752633,0.0002279274,0.000517069,0.0004417829,0.0001974953],"domain_scores_gemma":[0.9981627,0.0007872336,0.000368431,0.0002895769,0.0001925543,0.0001995884],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004066744,0.0002171376,0.01718372,0.00007113312,0.00004521397,0.000708324,0.0001846551,0.0001760559,0.9692631,0.0008011732,0.0001691874,0.01077354],"study_design_scores_gemma":[0.0001291667,0.002764143,0.09270766,0.00002860695,0.0002404725,0.01537534,0.0002717778,0.006083915,0.8762657,0.0007280764,0.005327694,0.00007740911],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9331696,0.0007719329,0.06042138,0.0001063089,0.00007697976,0.0003239971,0.0002749208,0.0006342696,0.004220503],"genre_scores_gemma":[0.9273128,0.0003995454,0.06958546,0.00007596736,0.00002171385,0.0003454798,0.0008633104,0.00006981709,0.001326009],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002013954,"threshold_uncertainty_score":0.005760312,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03938897214731268,"score_gpt":0.3317914946360905,"score_spread":0.2924025224887778,"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."}}