{"id":"W2134638008","doi":"10.1186/gb-2011-12-7-r68","title":"Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities","year":2011,"lang":"en","type":"article","venue":"Genome biology","topic":"Genomics and Phylogenetic Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":210,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Human Genome Research Institute; Natural Sciences and Engineering Research Council of Canada","keywords":"Biology; Human genetics; Genetics; Exome sequencing; Exome; Exon; DNA sequencing; Computational biology; Sequence (biology); DNA; Evolutionary biology; Gene; Mutation","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":[0.0005299339,0.0003085818,0.0003549545,0.0006080936,0.0002544229,0.0007243227,0.0002902159,0.0006577872,0.002747763],"category_scores_gemma":[0.001057144,0.0002032209,0.0004998465,0.0005596365,0.0002963549,0.0002708464,0.0004208756,0.0006013411,0.0009439138],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003606186,"about_ca_system_score_gemma":0.0001901196,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007072688,"about_ca_topic_score_gemma":0.001718981,"domain_scores_codex":[0.9994063,0.00005842034,0.00003546432,0.0002575948,0.0001600031,0.00008215263],"domain_scores_gemma":[0.9991173,0.0004527314,0.0001550476,0.0001300758,0.0000937149,0.00005105863],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004728519,0.00005709274,0.03061484,0.0003068528,0.000206385,0.0004908229,0.0001410232,0.001714154,0.949523,0.001115498,0.0006684816,0.01468899],"study_design_scores_gemma":[0.0000439343,0.0002934919,0.2364694,0.00008780381,0.0003106901,0.004402277,0.0001482595,0.01818028,0.7231575,0.002007594,0.01484978,0.0000488803],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9354784,0.001373848,0.05625506,0.0001986801,0.00004665503,0.00003448627,0.003691315,0.0006060523,0.00231557],"genre_scores_gemma":[0.9570274,0.0005203562,0.03252457,0.0005154118,0.00002380614,0.00006495485,0.00693968,0.0002377568,0.002146035],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002747763,"threshold_uncertainty_score":0.009192228,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03548262205521637,"score_gpt":0.2335162408552415,"score_spread":0.1980336188000251,"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."}}