{"id":"W4302362755","doi":"10.1002/ccr3.6343","title":"Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p","year":2022,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Medicine; Hypertelorism; Hypotonia; Trisomy; Derivative chromosome; Chromosomal translocation; Anatomy; Internal medicine; Pathology; Chromosome 15; Biology; Genetics","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":[0.0006123448,0.00009531051,0.0001943362,0.00003261869,0.0001466612,0.00001251096,0.0000372313,0.0000786072,0.00006222786],"category_scores_gemma":[0.0002091076,0.0001014959,0.000146831,0.0001120298,0.00003400052,0.00000537039,0.00008664717,0.00009539007,6.06124e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002502978,"about_ca_system_score_gemma":0.0001494004,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001784649,"about_ca_topic_score_gemma":0.00004159591,"domain_scores_codex":[0.9985161,0.0001005835,0.0007825522,0.0003263285,0.000129227,0.0001452256],"domain_scores_gemma":[0.999197,0.00002028315,0.0002727373,0.0003232536,0.0000966193,0.00009010247],"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":[0.001931559,0.007435434,0.4003862,0.0002956568,0.0008404254,0.01988886,0.003286332,0.03786247,0.454842,0.0003947843,0.01206375,0.06077249],"study_design_scores_gemma":[0.01172601,0.009715186,0.1255638,0.0002608986,0.0009813558,0.1372052,0.008506882,0.003647826,0.3885064,0.0004757392,0.3103207,0.003090076],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939611,0.0002590692,0.004709578,0.0001734691,0.0004805447,0.000269619,0.00005670643,0.00001026639,0.00007962179],"genre_scores_gemma":[0.9983598,0.00003976476,0.0006739977,0.0001856287,0.0002265592,0.0002065254,0.0001596786,0.00001297963,0.000135059],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2982569,"threshold_uncertainty_score":0.4138883,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05854456764719997,"score_gpt":0.3230253883748045,"score_spread":0.2644808207276046,"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."}}