{"id":"W2093097787","doi":"10.1371/journal.pgen.0010083","title":"Accurate Prediction of the Functional Significance of Single Nucleotide Polymorphisms and Mutations in the ABCA1 Gene","year":2005,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":146,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Child and Family Research Institute","funders":"Canadian Institutes of Health Research; Killam Trusts; Michael Smith Health Research BC; Heart and Stroke Foundation of Canada","keywords":"Biology; Genetics; Single-nucleotide polymorphism; In silico; Gene; Genetic variation; Coding region; Negative selection; Mutation; Computational biology; Genome; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009322539,0.00006326477,0.0001157176,0.00004032741,0.0000323217,0.00000493472,0.00006204407,0.00003469298,0.00001875856],"category_scores_gemma":[0.00003617791,0.00003904696,0.000034467,0.000154953,0.000117973,0.00002703581,0.00001883,0.00008394825,0.000001486824],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001181412,"about_ca_system_score_gemma":0.00004007291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005956056,"about_ca_topic_score_gemma":0.00001865908,"domain_scores_codex":[0.9993296,0.00004298474,0.0002314118,0.00009706033,0.0002161799,0.00008274058],"domain_scores_gemma":[0.9995696,0.00005516553,0.00009415399,0.0001944575,0.00006161299,0.00002502652],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00003898323,0.0003535715,0.02891104,0.00002957554,0.00002763013,4.059037e-7,0.001361083,0.0007983543,0.9658449,0.00005743556,0.0001270118,0.002450024],"study_design_scores_gemma":[0.0007683486,0.00008480229,0.735914,0.00003916945,0.0001391444,0.00001539956,0.0001802727,0.0033564,0.2571999,0.00007819563,0.00218655,0.00003784986],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970538,0.0008018191,0.00007566847,0.00136965,0.000114464,0.0002625594,0.00004179277,0.00000582573,0.0002744086],"genre_scores_gemma":[0.9988366,0.00008276688,0.0003436554,0.0003016349,0.0003123849,0.00001135234,0.000008498429,0.000007811713,0.00009530759],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.708645,"threshold_uncertainty_score":0.1592289,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03853864496480585,"score_gpt":0.2377001045185219,"score_spread":0.1991614595537161,"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."}}