{"id":"W4240915170","doi":"10.3410/f.1071819.534850","title":"Faculty Opinions recommendation of Most rare missense alleles are deleterious in humans: implications for complex disease and association studies.","year":2007,"lang":"en","type":"dataset","venue":"Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of General Medical Sciences; National Institutes of Health; Genome Canada","keywords":"Missense mutation; Genetics; Biology; Allele; Mendelian inheritance; Phenotype; Gene; Allelic heterogeneity; Genetic association; Candidate gene; Population; Allele frequency; Mutation; Genotype; Single-nucleotide polymorphism; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01081604,0.0008534132,0.001831914,0.002386678,0.003096508,0.006684228,0.003169468,0.0135717,0.1852465],"category_scores_gemma":[0.07378615,0.0007448739,0.001192678,0.003872675,0.002326439,0.003193639,0.001398371,0.01038139,0.1180786],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002806478,"about_ca_system_score_gemma":0.009224467,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01187642,"about_ca_topic_score_gemma":0.01924702,"domain_scores_codex":[0.9933401,0.001049068,0.000851108,0.0007671205,0.00360624,0.0003864511],"domain_scores_gemma":[0.908727,0.01597751,0.004647954,0.005035505,0.05554361,0.01006843],"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":[0.00005150091,0.00003460471,0.0008122203,0.0001512482,0.00001910225,0.00007456477,0.00003710406,0.00003296866,0.0001740601,0.0005195788,0.9720287,0.02606439],"study_design_scores_gemma":[0.00006844098,0.00004517757,0.004242824,0.0006087421,0.00004110915,0.0001358822,0.0002589397,0.0001262456,0.0001838093,0.003426677,0.9908183,0.00004399404],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"dataset","genre_scores_codex":[0.001094294,0.006325237,0.0019276,0.7368715,0.1706509,0.000268199,0.00771262,0.0006439699,0.0745057],"genre_scores_gemma":[0.01355937,0.020547,0.009721394,0.4225269,0.2467402,0.000737732,0.007645462,0.0008408565,0.2776811],"genre_candidate":"dataset","genre_consensus":null,"teacher_disagreement_score":0.1852465,"threshold_uncertainty_score":0.6197114,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04988961052478764,"score_gpt":0.3836211624640529,"score_spread":0.3337315519392652,"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."}}