{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003869645,0.00188284,0.0007341043,0.001336375,0.001631787,0.0008414704,0.001037951,0.001898326,0.002675492],"category_scores_gemma":[0.004060662,0.001235089,0.0005695642,0.0009899621,0.001894485,0.0006862712,0.001670334,0.001628239,0.0006751907],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007924538,"about_ca_system_score_gemma":0.0005691083,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002577559,"about_ca_topic_score_gemma":0.002151043,"domain_scores_codex":[0.9991601,0.0001154367,0.00009556188,0.0002520372,0.0001840425,0.0001929187],"domain_scores_gemma":[0.9986559,0.0003291821,0.0003716593,0.0001225037,0.00008615521,0.000434543],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001360811,0.0001893399,0.05298343,0.00005002694,0.0000449081,0.9291787,0.002889875,0.00009826921,0.00550451,0.0007619114,0.0007308938,0.00743219],"study_design_scores_gemma":[0.00005472453,0.0002412444,0.03080986,0.00001727382,0.00003353028,0.9649057,0.0005267075,0.0001757925,0.001211862,0.0003097129,0.001691857,0.00002183615],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960874,0.0005016476,0.0007778215,0.0003821843,0.00005365622,0.00006227645,0.0001460094,0.00005091263,0.001938141],"genre_scores_gemma":[0.9972574,0.0002606623,0.000704576,0.0002566909,0.00004939663,0.00003733585,0.0001283926,0.00002190696,0.001283518],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002675492,"threshold_uncertainty_score":0.008950472,"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."}}