{"id":"W3020443697","doi":"10.1101/mcs.a004721","title":"De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders","year":2020,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Lawrence College; Ontario Genomics; Queen's University","funders":"","keywords":"Copy-number variation; Biology; Exome sequencing; Genetics; Transcriptome; Gene duplication; Neurodevelopmental disorder; Gene; Candidate gene; Phenotype; Autism; Gene expression; Genome; Medicine; Psychiatry","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":[0.0001065671,0.0006625986,0.0004194949,0.001154427,0.0006623091,0.0002795452,0.0002833331,0.0005634116,0.004925875],"category_scores_gemma":[0.001078915,0.0002086361,0.0003786336,0.0008387611,0.0005780548,0.0001965406,0.0005479713,0.0004325317,0.0004245545],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002955745,"about_ca_system_score_gemma":0.0002197584,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001605837,"about_ca_topic_score_gemma":0.002288632,"domain_scores_codex":[0.9996967,0.00003087717,0.00001975726,0.0001405379,0.00006833364,0.00004382241],"domain_scores_gemma":[0.9994757,0.0001772991,0.0001886999,0.00003700709,0.00002549568,0.00009578178],"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":[0.001349167,0.0001384806,0.3164467,0.0002135369,0.0002459132,0.386936,0.001591996,0.0006448982,0.2543255,0.001839702,0.001279212,0.03498882],"study_design_scores_gemma":[0.00006170636,0.0003271959,0.4479113,0.00007053354,0.0001741678,0.5238166,0.0004914915,0.0008438214,0.01897784,0.001011439,0.00626631,0.00004759507],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958979,0.000557381,0.001357095,0.000140836,0.00003081578,0.00002141042,0.0005578582,0.00005542266,0.001381136],"genre_scores_gemma":[0.9978684,0.0003238629,0.001003561,0.00005687162,0.00002546094,0.00001337756,0.0002578202,0.00001380759,0.0004367463],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004925875,"threshold_uncertainty_score":0.01647872,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02672193061298739,"score_gpt":0.2497151473245147,"score_spread":0.2229932167115273,"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."}}