{"id":"W2897800944","doi":"10.1002/humu.23634","title":"ClinVar database of global familial hypercholesterolemia‐associated DNA variants","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":114,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials; Western University","funders":"National Human Genome Research Institute; Fundação para a Ciência e a Tecnologia; National Institutes of Health; Esperion Therapeutics; University College London Hospitals NHS Foundation Trust; Sanofi; Kowa Company; Association for Molecular Pathology; National Institute for Health and Care Research; Regeneron Pharmaceuticals; Ministerstvo Zdravotnictví Ceské Republiky; British Heart Foundation; Alexion Pharmaceuticals; Pfizer; National Institute of Diabetes and Digestive and Kidney Diseases; Amgen","keywords":"Biology; Personalized medicine; Resource (disambiguation); Mendelian inheritance; Whole genome sequencing; Disease; Bioinformatics; Database; Genetics; Genome; Medicine; Internal medicine; Computer science; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005403175,0.00009197034,0.0002401619,0.00003311206,0.00009568097,0.000008770576,0.00005551183,0.00008970418,0.0000768477],"category_scores_gemma":[0.0001252183,0.00008559383,0.0001026108,0.0001693221,0.00008644762,0.00009080765,0.0000249137,0.00008310781,0.00005841543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001333544,"about_ca_system_score_gemma":0.0001217295,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006351023,"about_ca_topic_score_gemma":0.0002553405,"domain_scores_codex":[0.9988512,0.00009977855,0.0002901018,0.0002055428,0.0003823796,0.0001709796],"domain_scores_gemma":[0.9992077,0.000008899025,0.0001098699,0.0003449994,0.0002355359,0.00009300956],"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":[0.002376021,0.004505057,0.3218732,0.002653487,0.003147647,0.0007861942,0.006134889,0.00002453167,0.4189935,0.01588586,0.01017075,0.2134488],"study_design_scores_gemma":[0.004048244,0.0007916937,0.9892331,0.0002279055,0.000265467,0.00005572148,0.0001970083,0.0001863114,0.004091453,0.0005083265,0.0002701318,0.0001245766],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956524,0.00005300398,0.0009857867,0.00006609582,0.0001612617,0.0003301874,0.00006625034,0.00004656774,0.002638497],"genre_scores_gemma":[0.9983651,0.000007465846,0.0004153818,0.000318045,0.0005028588,0.000008211065,0.0003045759,0.00001219493,0.0000661906],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6673599,"threshold_uncertainty_score":0.3490415,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03314537112461285,"score_gpt":0.3245010502300823,"score_spread":0.2913556791054694,"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."}}