{"id":"W4294543436","doi":"10.1146/annurev-genet-072920-032107","title":"Scalable Functional Assays for the Interpretation of Human Genetic Variation","year":2022,"lang":"en","type":"review","venue":"Annual Review of Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"National Human Genome Research Institute","keywords":"Biology; Computational biology; Human genome; Genetics; Genome; Gene","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":[0.005886471,0.001812585,0.002211502,0.002592775,0.0003866175,0.002127357,0.002525638,0.002373882,0.003210163],"category_scores_gemma":[0.004187902,0.0008584158,0.0009641107,0.002031836,0.001990148,0.002162325,0.002007058,0.004161634,0.004244561],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00127155,"about_ca_system_score_gemma":0.001374141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007349468,"about_ca_topic_score_gemma":0.0008771849,"domain_scores_codex":[0.997615,0.0006566781,0.0001487301,0.0003664754,0.001070109,0.0001429988],"domain_scores_gemma":[0.9975866,0.001560944,0.0001492032,0.0001794758,0.000429268,0.00009447121],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0001678628,0.0001509758,0.0006788052,0.01251587,0.0002044045,0.0004348619,0.0001952719,0.003051636,0.1038305,0.08788767,0.04428345,0.7465987],"study_design_scores_gemma":[0.00004794347,0.0002371185,0.0007766968,0.001206356,0.0001178537,0.001402863,0.00007883628,0.001568366,0.03781604,0.02802753,0.9286069,0.0001136579],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001452466,0.8861679,0.09620137,0.002562157,0.00174328,0.0002187667,0.0007132359,0.0005968455,0.01034396],"genre_scores_gemma":[0.01208715,0.9125251,0.06527273,0.001971577,0.0009993018,0.0005703569,0.001264374,0.0001353337,0.00517409],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.005886471,"threshold_uncertainty_score":0.03113097,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02625666703370269,"score_gpt":0.3226629806119745,"score_spread":0.2964063135782718,"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."}}