{"id":"W2130788518","doi":"10.1002/ajmg.10595","title":"Interstitial microdeletion of chromosome 1p in two siblings","year":2002,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Failure to thrive; Syringomyelia; Medicine; Dysplasia; Agenesis of the corpus callosum; Laryngomalacia; Spasticity; Inguinal hernia; Genetics; Pediatrics; Corpus callosum; Hernia; Anatomy; Spinal cord; Biology; Pathology; Surgery","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":[0.0003055636,0.00009520738,0.0002340425,0.000105162,0.00001575328,0.000008201589,0.0002927937,0.00005500593,0.0002205204],"category_scores_gemma":[0.0001077943,0.00008349996,0.00009831986,0.0001499008,0.0002615743,0.000003282891,0.00006866816,0.0001579254,0.000003235766],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001746659,"about_ca_system_score_gemma":0.00008507237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004382916,"about_ca_topic_score_gemma":0.00003213898,"domain_scores_codex":[0.998782,0.00007571565,0.0005284839,0.0001057578,0.0003486623,0.0001593794],"domain_scores_gemma":[0.9992806,0.00001919904,0.0003325851,0.000125325,0.0001177462,0.0001245899],"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":[0.0005054494,0.001594013,0.05754048,0.0001271133,0.0005128793,0.0002153002,0.003876618,0.003229442,0.6522481,0.0006210905,0.005223626,0.2743058],"study_design_scores_gemma":[0.02338174,0.0281827,0.03211489,0.001509021,0.0004849935,0.007057514,0.01410835,0.01680202,0.723963,0.00115529,0.148621,0.00261941],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952108,0.00110486,0.002607561,0.0006899533,0.0001670918,0.00003223514,0.000006172381,0.000001221346,0.0001801254],"genre_scores_gemma":[0.9953319,0.002098503,0.001864736,0.0002592585,0.0003882321,9.471277e-7,0.000004609664,0.00001053152,0.00004123547],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2716864,"threshold_uncertainty_score":0.3405029,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00945767214497341,"score_gpt":0.2639277368827965,"score_spread":0.2544700647378231,"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."}}