{"id":"W2338328727","doi":"10.1097/mcd.0000000000000125","title":"Partial monosomy 1q43 and partial trisomy 20q13.2: a case report","year":2016,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Medicine; Partial Trisomy; Monosomy; Trisomy; Library science; Family medicine; Pediatrics; Genetics; Karyotype; Chromosome; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005211078,0.0001729691,0.0002929684,0.00002717527,0.0001110499,0.00001724138,0.0001247055,0.0003560906,0.0002664092],"category_scores_gemma":[0.000551186,0.0001251217,0.000143364,0.0000390913,0.0004074961,0.000006583038,0.0002166589,0.0001099279,0.00006662586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008504668,"about_ca_system_score_gemma":0.0001049024,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004146146,"about_ca_topic_score_gemma":0.00002287765,"domain_scores_codex":[0.9980633,0.0002151804,0.0007195098,0.0005945613,0.00006513236,0.0003423363],"domain_scores_gemma":[0.9989154,0.0001214766,0.0001961011,0.0005002327,0.00007447854,0.0001922806],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002143399,0.001539604,0.6031476,0.00005958653,0.001012101,0.09474432,0.0002201103,0.00001265189,0.153613,0.009952878,0.05539226,0.07816251],"study_design_scores_gemma":[0.007474073,0.002645064,0.03222582,0.00002421621,0.0002270251,0.1479365,0.0001846163,0.00004914305,0.04752015,0.001231033,0.7594823,0.001000065],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937139,0.0002120094,0.003156502,0.001433271,0.0006336721,0.0001545211,0.00005162687,0.00002080861,0.000623725],"genre_scores_gemma":[0.9954725,0.0001613565,0.0005545198,0.0004887634,0.0009519689,0.000046064,0.00004418469,0.00002003371,0.00226063],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7040901,"threshold_uncertainty_score":0.5102317,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02947815658301711,"score_gpt":0.3163382890107707,"score_spread":0.2868601324277536,"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."}}