{"id":"W6967536892","doi":"10.5281/zenodo.10949629","title":"INTERPRETING THE LANDSCAPE OF HUMAN GENETIC VARIATION","year":2024,"lang":"en","type":"article","venue":"Zenodo (CERN European Organization for Nuclear Research)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Institute of Infection and Immunity","funders":"National Human Genome Research Institute","keywords":"Human genetic variation; Human genome; Genetic variation; Genetic testing; Function (biology); Variation (astronomy); Human genetics; Genetic variants; Genome","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":[0.01132121,0.0005332736,0.0006519597,0.003726475,0.001217483,0.006499883,0.001036565,0.001456267,0.01407447],"category_scores_gemma":[0.03866203,0.0004440249,0.00070603,0.002683154,0.001955453,0.002997482,0.00330204,0.002744172,0.002164137],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00161884,"about_ca_system_score_gemma":0.001519358,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004202761,"about_ca_topic_score_gemma":0.005410104,"domain_scores_codex":[0.9955181,0.002448594,0.0001543198,0.0008164519,0.0008912008,0.0001712517],"domain_scores_gemma":[0.9858239,0.009371109,0.0008434264,0.001330573,0.001989626,0.0006414005],"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":[0.0003667843,0.00006699492,0.1264774,0.001040889,0.0009055829,0.001306836,0.003709986,0.008186567,0.005648815,0.04469467,0.2812194,0.5263761],"study_design_scores_gemma":[0.00008864884,0.0002274931,0.121398,0.001855627,0.000503349,0.002077661,0.008578561,0.01389082,0.003128969,0.3491763,0.4988182,0.0002563031],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1847338,0.07004197,0.1965749,0.3572949,0.01292535,0.0004462937,0.02220155,0.004395284,0.1513859],"genre_scores_gemma":[0.744436,0.02871744,0.1321985,0.05605007,0.007752936,0.0004906661,0.008929108,0.002259508,0.01916583],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01407447,"threshold_uncertainty_score":0.05987304,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01290273750637378,"score_gpt":0.2389151137236287,"score_spread":0.226012376217255,"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."}}