{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002437723,0.0007244263,0.001130338,0.006876252,0.000936928,0.002384586,0.002160056,0.001007721,0.02028495],"category_scores_gemma":[0.013875,0.0004491664,0.0005521596,0.007543634,0.0003076081,0.0008832226,0.001762808,0.001188794,0.008441567],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000853994,"about_ca_system_score_gemma":0.003518115,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008329584,"about_ca_topic_score_gemma":0.01361507,"domain_scores_codex":[0.9985801,0.0002189661,0.0004944224,0.000346509,0.0002785295,0.0000815171],"domain_scores_gemma":[0.9929517,0.002558827,0.0009498554,0.001404922,0.001446688,0.0006879112],"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":[0.003730616,0.0002799824,0.06859019,0.005562406,0.0006656376,0.005251004,0.001151892,0.002084686,0.01105675,0.01125675,0.7723654,0.1180046],"study_design_scores_gemma":[0.001104661,0.000218897,0.07445002,0.001568382,0.0005160366,0.006419001,0.0005506693,0.003602202,0.005709066,0.008690729,0.8969708,0.000199552],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.02506571,0.001919492,0.006617574,0.0008573245,0.0002016714,0.0003943938,0.9528354,0.004080083,0.008028316],"genre_scores_gemma":[0.02812249,0.0006932749,0.01071751,0.000350017,0.00005832492,0.0004673897,0.9572566,0.0006437456,0.001690697],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.02028495,"threshold_uncertainty_score":0.06785995,"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."}}