{"id":"W4210622407","doi":"10.3410/f.1071819.524743","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; 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":[0.009984961,0.0008101144,0.001674883,0.002363931,0.002981724,0.006707665,0.003015593,0.01171923,0.2239084],"category_scores_gemma":[0.06668853,0.0006905138,0.001143291,0.003661123,0.002082082,0.003190218,0.001473088,0.009511679,0.1340005],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002701286,"about_ca_system_score_gemma":0.009142377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01073742,"about_ca_topic_score_gemma":0.0176087,"domain_scores_codex":[0.9940332,0.0008605161,0.0007141097,0.0007275473,0.003283877,0.0003808073],"domain_scores_gemma":[0.918111,0.01291739,0.004263523,0.004520745,0.04984556,0.01034176],"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":[0.00005338105,0.00003409571,0.0008193349,0.0001491918,0.00001769024,0.00007228513,0.0000351042,0.00003125897,0.0001945208,0.000588918,0.9707975,0.02720669],"study_design_scores_gemma":[0.00006382062,0.00004228221,0.003782323,0.0005968916,0.00003623854,0.0001368908,0.0002378505,0.000121978,0.0001950249,0.003500729,0.991244,0.00004204245],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"dataset","genre_scores_codex":[0.001382855,0.007282038,0.002608743,0.6938415,0.182374,0.0003026999,0.01110969,0.0008809534,0.1002174],"genre_scores_gemma":[0.01601745,0.02377311,0.01149267,0.3767811,0.2243759,0.0007323691,0.01060467,0.001101609,0.3351211],"genre_candidate":"dataset","genre_consensus":null,"teacher_disagreement_score":0.2239084,"threshold_uncertainty_score":0.7490482,"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."}}