{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001689959,0.000199813,0.000216462,0.0002268602,0.0003899521,0.000117195,0.0002783787,0.0001857206,0.00008264887],"category_scores_gemma":[0.00004293002,0.0001928023,0.00002579733,0.0007446021,0.0001115518,0.00004010186,0.0001888773,0.0003611909,0.00004035002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001627391,"about_ca_system_score_gemma":0.0005252628,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01016766,"about_ca_topic_score_gemma":0.0149261,"domain_scores_codex":[0.996987,0.0007089315,0.0004884399,0.0008125205,0.0004481354,0.0005549086],"domain_scores_gemma":[0.9985455,0.0000593397,0.0001426215,0.0006872313,0.0004278501,0.000137432],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001724609,0.005079777,0.6629465,0.000149317,0.0002058932,0.0004927332,0.04026141,0.001133825,0.283692,0.0002492805,0.0002417715,0.003822929],"study_design_scores_gemma":[0.0139106,0.0181902,0.459638,0.0001781168,0.0001356171,0.001011156,0.06177901,0.003242137,0.4373531,0.0006645132,0.001816372,0.002081169],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977031,0.00009844381,0.000263414,0.0002515839,0.0001248224,0.001061772,0.00007530583,0.00001820008,0.0004034028],"genre_scores_gemma":[0.997043,0.00004267549,0.001105391,0.00004219904,0.0008488634,0.0002911063,0.0002895052,0.00004164931,0.0002956545],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2033085,"threshold_uncertainty_score":0.9964237,"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."}}