{"id":"W3082557484","doi":"","title":"Characterizing and quantifying the effect of the recurrent copy number variants between BP1-BP2 at chromosome 15q11.2","year":2019,"lang":"en","type":"article","venue":"","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal","funders":"","keywords":"Genetics; Copy-number variation; Biology; Chromosome; Computational biology; Gene; Genome","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":[0.0007476916,0.0004564815,0.0003255109,0.0009494757,0.0001754598,0.0006576151,0.0003328971,0.0004655562,0.001496459],"category_scores_gemma":[0.001982373,0.0002538752,0.0003612947,0.0005936614,0.0004298939,0.0001982241,0.0003145354,0.000477215,0.0002275603],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003333229,"about_ca_system_score_gemma":0.0002306386,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003159639,"about_ca_topic_score_gemma":0.005594812,"domain_scores_codex":[0.999076,0.0001664203,0.00004919394,0.0003422992,0.0002930779,0.00007292413],"domain_scores_gemma":[0.9991137,0.0004775336,0.0001899035,0.00009926723,0.00006260532,0.00005700285],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004031212,0.00006603688,0.03182436,0.00007494714,0.0001766464,0.0001635445,0.0000597842,0.001155683,0.9531575,0.0002219679,0.00008039275,0.01261597],"study_design_scores_gemma":[0.00005076332,0.0007398473,0.4074926,0.0000204808,0.0004292133,0.001449094,0.00008626736,0.008929592,0.5776526,0.0004384215,0.002675662,0.00003552127],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881543,0.001024149,0.009087802,0.00005371046,0.00002067043,0.0000354638,0.0006649133,0.00009677928,0.0008622998],"genre_scores_gemma":[0.991126,0.0003371922,0.007031735,0.00005517319,0.000009831066,0.0000349169,0.0005608234,0.00004836686,0.0007960332],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003159639,"threshold_uncertainty_score":0.006282508,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01102675975335188,"score_gpt":0.2439703931718754,"score_spread":0.2329436334185235,"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."}}