{"id":"W3101445037","doi":"10.1111/epi.16766","title":"Transcriptome analysis of a ring chromosome 20 patient cohort","year":2020,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"National Health and Medical Research Council","keywords":"Ring chromosome; Biology; Genetics; Gene; Transcriptome; Transcription (linguistics); Chromosome 15; Chromosome; Gene expression; Karyotype","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":[0.0001876131,0.0002577389,0.0004766512,0.0005503797,0.0004817659,0.0005710803,0.000159191,0.000356265,0.00197447],"category_scores_gemma":[0.0007080211,0.0001357368,0.0002959898,0.0004602495,0.0001832545,0.0001445441,0.0003687687,0.0003066086,0.0005515558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002201168,"about_ca_system_score_gemma":0.0001542024,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009792108,"about_ca_topic_score_gemma":0.00112563,"domain_scores_codex":[0.9998252,0.00001933416,0.00001408092,0.00007744964,0.00003282528,0.00003126152],"domain_scores_gemma":[0.9997825,0.00005125885,0.00004007492,0.00002857821,0.00005108775,0.00004654486],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002720912,0.0002203083,0.7464399,0.0002291725,0.0003980234,0.01058609,0.001486899,0.001039639,0.1903947,0.0003406506,0.006708723,0.03943495],"study_design_scores_gemma":[0.00006299384,0.0005162079,0.9630291,0.00003640829,0.0002367101,0.01378701,0.000925954,0.001437016,0.008656023,0.0004289124,0.01084335,0.00004014923],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947195,0.0003177027,0.0006549489,0.00008914234,0.0000146914,0.00001722891,0.003516504,0.00003010234,0.0006402711],"genre_scores_gemma":[0.9851072,0.0005116215,0.001130323,0.0001926127,0.00003767835,0.00008870196,0.01167474,0.00006544578,0.001191627],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00197447,"threshold_uncertainty_score":0.006605268,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009718343485940957,"score_gpt":0.2115213268483576,"score_spread":0.2018029833624166,"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."}}