{"id":"W2989686106","doi":"10.1534/g3.119.400771","title":"Challenges and Approaches to Genotyping Repetitive DNA","year":2019,"lang":"en","type":"article","venue":"G3 Genes Genomes Genetics","topic":"Evolution and Genetic Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute on Aging","keywords":"Copy-number variation; Biology; Genotyping; Genetics; Genome; Computational biology; Copy number analysis; DNA sequencing; Alu element; Ribosomal DNA; Gene; Human genome; Genotype; Phylogenetics","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002095901,0.0002767499,0.0002311121,0.00009143088,0.0000791266,0.00003350098,0.0002581919,0.0002012794,0.00002469885],"category_scores_gemma":[0.00000611723,0.000291959,0.00008021603,0.00008967725,0.00007522391,0.000002988542,0.0003899526,0.00007619812,0.0001198034],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002121139,"about_ca_system_score_gemma":0.00006973871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001933704,"about_ca_topic_score_gemma":0.00007852077,"domain_scores_codex":[0.9983064,0.00006811762,0.0002569943,0.0007721612,0.0001719383,0.0004243983],"domain_scores_gemma":[0.9989343,0.00001218031,0.00007741512,0.0006836507,0.00007389933,0.0002185815],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004593655,0.00003901814,0.003482789,0.00006711018,0.00008942882,0.000001410435,0.0005342502,0.002424867,0.1337557,0.001014557,0.0000833684,0.8584616],"study_design_scores_gemma":[0.001092384,0.001187524,0.0405794,0.00003366162,0.00007183304,0.00009771076,0.0018166,0.002481323,0.04934775,0.0005573215,0.9014357,0.001298844],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.4425538,0.5456586,0.00148728,0.0004612929,0.0002510847,0.00051455,0.0000201432,0.00002727462,0.009025906],"genre_scores_gemma":[0.7530593,0.2338469,0.009040078,0.0005485181,0.000343497,0.00003868627,0.00008551132,0.00006732161,0.002970111],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.9013523,"threshold_uncertainty_score":0.9999533,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0522404434690831,"score_gpt":0.2367353147820954,"score_spread":0.1844948713130123,"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."}}