{"id":"W2940832308","doi":"10.1016/j.jmoldx.2019.02.009","title":"Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories","year":2019,"lang":"en","type":"article","venue":"Journal of Molecular Diagnostics","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Agricultural Research Institute of Ontario","funders":"","keywords":"Pathogenicity; Allele; Genetics; Genetic testing; Cardiomyopathy; Allele frequency; Clinical significance; Exome; Biology; Exome sequencing; Computational biology; Gene; Medicine; Mutation; Internal medicine; Heart failure","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":[0.01128569,0.0007586653,0.000890396,0.00240125,0.0004889985,0.00313011,0.001001909,0.001165896,0.002146836],"category_scores_gemma":[0.03703816,0.00077932,0.0004875979,0.001129436,0.0005261056,0.001170522,0.001388404,0.001457129,0.0016763],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001898596,"about_ca_system_score_gemma":0.0005525703,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008845208,"about_ca_topic_score_gemma":0.003333357,"domain_scores_codex":[0.9925389,0.004298849,0.000607593,0.0008693935,0.001483326,0.0002019087],"domain_scores_gemma":[0.9662989,0.02509222,0.001480905,0.003800268,0.002860949,0.0004668248],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001747338,0.0006518696,0.2475542,0.0004202875,0.00041675,0.001248745,0.0006763023,0.009160808,0.2241644,0.004435358,0.006862575,0.5026613],"study_design_scores_gemma":[0.0004187478,0.001473441,0.5063314,0.0004651978,0.0007922697,0.01353044,0.0009356792,0.1946043,0.216014,0.02781685,0.03720017,0.0004175065],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.3098944,0.002023071,0.6682137,0.001876241,0.0003285585,0.0003504282,0.001339228,0.005720594,0.0102538],"genre_scores_gemma":[0.5040038,0.0005854332,0.4917007,0.0007143189,0.0002057584,0.0001209787,0.000727021,0.000469246,0.001472755],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01128569,"threshold_uncertainty_score":0.05968517,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00529623431108972,"score_gpt":0.2283228846399628,"score_spread":0.2230266503288731,"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."}}