{"id":"W2332710852","doi":"10.1515/hsz-2014-0136","title":"Mining for single nucleotide variants (SNVs) at the kallikrein locus with predicted functional consequences","year":2014,"lang":"en","type":"article","venue":"Biological Chemistry","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University Health Network; University of Toronto; Mount Sinai Hospital","funders":"National Heart, Lung, and Blood Institute","keywords":"Locus (genetics); Biology; Genetics; Exome; Computational biology; Gene; Exome sequencing; Phenotype","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":[0.0007541012,0.0005384935,0.000687513,0.00255134,0.0004441987,0.0006944577,0.0004868458,0.0007000627,0.002020937],"category_scores_gemma":[0.00238159,0.0001804747,0.0009114058,0.002688328,0.0002513957,0.0002722247,0.00049479,0.0004708348,0.0007325452],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001737707,"about_ca_system_score_gemma":0.0004695435,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001079886,"about_ca_topic_score_gemma":0.002774621,"domain_scores_codex":[0.9993175,0.00007905711,0.0001117437,0.0002802195,0.0001607703,0.00005061846],"domain_scores_gemma":[0.9982927,0.0008498995,0.0004867264,0.000110764,0.0001325021,0.0001273813],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001324175,0.000197678,0.7868842,0.002010933,0.001835594,0.01239407,0.0003594781,0.003690025,0.06652458,0.001226298,0.009734106,0.1138188],"study_design_scores_gemma":[0.0002466074,0.0005051755,0.8730058,0.0003789342,0.002595624,0.02930321,0.0004655439,0.02078164,0.03006455,0.004868345,0.03766751,0.0001170822],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9583307,0.005900889,0.01072947,0.0002941687,0.00009856687,0.0001038155,0.02265811,0.0004781555,0.001406133],"genre_scores_gemma":[0.9466024,0.001804874,0.01191082,0.0002233161,0.00008075604,0.00006873305,0.03817873,0.0001490621,0.00098132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00255134,"threshold_uncertainty_score":0.006760657,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04081769839696109,"score_gpt":0.2394063032387254,"score_spread":0.1985886048417643,"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."}}