{"id":"W4403090011","doi":"10.1101/2024.10.02.616333","title":"The Platinum Pedigree: A long-read benchmark for genetic variants","year":2024,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Cancer Agency","funders":"National Institute of Standards and Technology; National Institutes of Health","keywords":"Benchmark (surveying); Platinum; Computer science; Genetics; Biology; Computational biology; Geography; Biochemistry; Cartography","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":[0.005758114,0.00174143,0.0009452362,0.002245708,0.001033673,0.00173245,0.003152683,0.001794545,0.006573189],"category_scores_gemma":[0.02494599,0.0007708241,0.001385548,0.003218143,0.0006105481,0.001517385,0.001752495,0.001700211,0.004043289],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001262264,"about_ca_system_score_gemma":0.002136478,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01085195,"about_ca_topic_score_gemma":0.01872045,"domain_scores_codex":[0.9955773,0.001311646,0.0004172281,0.001331184,0.001118098,0.0002444356],"domain_scores_gemma":[0.9915231,0.004444062,0.0003041178,0.002168664,0.001250291,0.0003097102],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0038717,0.0007160982,0.06276805,0.002936986,0.00213988,0.001813963,0.0008324141,0.2209355,0.03771701,0.01804309,0.434195,0.2140303],"study_design_scores_gemma":[0.001570557,0.001137777,0.02996447,0.0003361437,0.0004701555,0.002208986,0.0003722163,0.638898,0.04622832,0.04906376,0.2294503,0.0002994404],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.3393449,0.00767848,0.1981977,0.002316339,0.001683472,0.0004478153,0.3138502,0.1161328,0.02034828],"genre_scores_gemma":[0.2452326,0.0009880334,0.2303893,0.001087108,0.0001557929,0.0005680996,0.5018041,0.01399657,0.005778599],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.01085195,"threshold_uncertainty_score":0.03045225,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008434756187050923,"score_gpt":0.2217574752332828,"score_spread":0.2133227190462318,"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."}}