{"id":"W3033026439","doi":"10.1136/jmedgenet-2020-106842","title":"Rare and <i>de novo</i> duplications containing <i>SHOX</i> in clubfoot","year":2020,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Cancer Institute; National Institutes of Health; Wellcome Trust; National Marfan Foundation","keywords":"Clubfoot; Copy-number variation; Genetics; Gene duplication; Biology; Pseudoautosomal region; Exome sequencing; Trisomy; Exome; Chromosome; Gene; Mutation","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":[0.000329872,0.00008626641,0.0001715695,0.0000442718,0.00002796911,0.00002023807,0.0002386662,0.0001618173,0.00006056714],"category_scores_gemma":[0.0004156746,0.00007467011,0.00005992534,0.0001187751,0.0001079006,0.000002988603,0.00009569871,0.0002173004,0.000001889588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004174231,"about_ca_system_score_gemma":0.000161563,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001740952,"about_ca_topic_score_gemma":0.00001050506,"domain_scores_codex":[0.9989089,0.00005105624,0.0004462719,0.0001235811,0.0003210843,0.000149051],"domain_scores_gemma":[0.9993034,0.00004103658,0.000134585,0.00007678005,0.000087712,0.0003564604],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001824946,0.001493451,0.3465204,0.0005852725,0.0004149544,0.001332292,0.005813322,0.001223392,0.3862315,0.002797063,0.02739027,0.2243732],"study_design_scores_gemma":[0.01164011,0.008388231,0.06404036,0.0003662019,0.0001488993,0.002317259,0.006200541,0.00294029,0.1370323,0.0009964987,0.7649503,0.0009789511],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9841994,0.002689834,0.0008243903,0.01146682,0.00006113974,0.0000447208,0.000003572669,0.000002619489,0.0007075219],"genre_scores_gemma":[0.9861825,0.006068024,0.001086064,0.006122104,0.0004691383,0.000001738049,0.000003788633,0.000008711184,0.00005799203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.73756,"threshold_uncertainty_score":0.3044959,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01907853855167129,"score_gpt":0.2900844739114411,"score_spread":0.2710059353597698,"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."}}