{"id":"W4387599780","doi":"10.1093/nar/gkad876","title":"RAVAR: a curated repository for rare variant–trait associations","year":2023,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Natural Science Foundation of China","keywords":"Biology; Biobank; Genome-wide association study; Genetic association; Trait; Missing heritability problem; Heritability; Genetics; Computational biology; Gene; Single-nucleotide polymorphism; Computer science; Genotype","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":[0.01077083,0.003473406,0.005321483,0.02160127,0.0014523,0.006831702,0.008999255,0.003196271,0.1289815],"category_scores_gemma":[0.06012961,0.002175474,0.003029605,0.02176262,0.0008479378,0.004241501,0.007868204,0.004273947,0.1115524],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009103813,"about_ca_system_score_gemma":0.00653333,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003470633,"about_ca_topic_score_gemma":0.006550293,"domain_scores_codex":[0.9917771,0.001715575,0.0022937,0.001935703,0.001762571,0.0005154646],"domain_scores_gemma":[0.9518,0.02277549,0.006807993,0.01026444,0.00588618,0.002465789],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009903122,0.0001209867,0.006550109,0.01604427,0.001207176,0.001428757,0.0004916522,0.001762146,0.004518953,0.00952061,0.8808545,0.07651069],"study_design_scores_gemma":[0.0006658821,0.0001037483,0.009975082,0.003011257,0.0009002501,0.00135635,0.0001262541,0.00204624,0.003729791,0.0177683,0.9599886,0.0003282315],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"software","genre_scores_codex":[0.001024802,0.002949544,0.02350342,0.0005133025,0.0004028756,0.0002465981,0.9314958,0.03523013,0.004633471],"genre_scores_gemma":[0.006006501,0.002388705,0.04052621,0.0005625887,0.0002939845,0.0007706379,0.9365802,0.009899958,0.00297122],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.1289815,"threshold_uncertainty_score":0.4314862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06219485326311875,"score_gpt":0.3730023820093494,"score_spread":0.3108075287462307,"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."}}