{"id":"W2890943387","doi":"10.1016/j.scr.2018.09.002","title":"Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7","year":2018,"lang":"en","type":"article","venue":"Stem Cell Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Ministry of Health, British Columbia; Ministero della Salute","keywords":"Biology; Copy-number variation; Genetics; Gene duplication; Chromosome; Penetrance; Gene; Phenotype; Genome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002147569,0.001210325,0.0005417474,0.001983399,0.00142696,0.000577552,0.0005394827,0.001856381,0.005491219],"category_scores_gemma":[0.001072243,0.0003288487,0.0005183188,0.0007334152,0.0008255431,0.0003427755,0.0006435559,0.0007120055,0.000751912],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003745897,"about_ca_system_score_gemma":0.0002736095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003126835,"about_ca_topic_score_gemma":0.001832459,"domain_scores_codex":[0.9995186,0.0000261587,0.00004834277,0.000260961,0.00009246996,0.00005337612],"domain_scores_gemma":[0.9996732,0.0001068589,0.00005954146,0.00003465033,0.00003172127,0.00009391766],"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":[0.0003029456,0.0003607571,0.06448469,0.0001025447,0.00007007886,0.8907036,0.002049186,0.0002220696,0.03056885,0.0006068161,0.0007921434,0.009736259],"study_design_scores_gemma":[0.00003755774,0.0004274512,0.05856639,0.00002860782,0.0001052407,0.9297335,0.0004615991,0.0006329676,0.006761468,0.0004476283,0.002763304,0.00003438462],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928544,0.0006612709,0.001770076,0.000314117,0.00006353067,0.0001598514,0.0006409361,0.0000691391,0.003466545],"genre_scores_gemma":[0.9966324,0.000389364,0.0008380712,0.0001595504,0.00006439757,0.0000453794,0.0003382778,0.0000304335,0.001502153],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005491219,"threshold_uncertainty_score":0.01836997,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04720096545149794,"score_gpt":0.3457552038193173,"score_spread":0.2985542383678194,"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."}}