{"id":"W2120043292","doi":"10.1136/jmedgenet-2014-102405","title":"Whole exome sequencing of familial hypercholesterolaemia patients negative for <i>LDLR</i>/<i>APOB</i>/<i>PCSK9</i> mutations","year":2014,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":118,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials","funders":"Medical Research Council; National Institute for Health and Care Research; University College London; British Heart Foundation; Wellcome Trust","keywords":"PCSK9; Apolipoprotein B; Familial hypercholesterolemia; Genetics; Exome sequencing; LDL receptor; Exome; Biology; Genome-wide association study; Locus (genetics); SNP; Allele; Gene; Mutation; Single-nucleotide polymorphism; Cholesterol; Lipoprotein; Genotype; Endocrinology","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":[0.0003901454,0.0003553893,0.0005151966,0.0007639049,0.0005686862,0.0005820525,0.0002528698,0.0006928084,0.002245981],"category_scores_gemma":[0.001459034,0.0002131433,0.000624999,0.0009009251,0.0001894036,0.0001193657,0.0004429661,0.000328755,0.0006338215],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002773535,"about_ca_system_score_gemma":0.0002243182,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005065011,"about_ca_topic_score_gemma":0.007006489,"domain_scores_codex":[0.9995306,0.00005676131,0.00005563097,0.0002240054,0.00007776077,0.00005523859],"domain_scores_gemma":[0.9995399,0.0001589063,0.00007723519,0.00007657635,0.00008837814,0.00005902258],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007429128,0.0002994093,0.6895776,0.001140487,0.002111586,0.01764589,0.002870818,0.001096699,0.2269693,0.000446373,0.008907508,0.04150505],"study_design_scores_gemma":[0.0002645609,0.0002979901,0.9780459,0.0001249677,0.0007146717,0.006381964,0.0004158213,0.000629119,0.005884493,0.0002123322,0.006994776,0.00003331996],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913571,0.0006599571,0.0005152792,0.00007343703,0.00001462812,0.00002457509,0.006813113,0.0000131084,0.0005287874],"genre_scores_gemma":[0.9761081,0.0004849168,0.001317498,0.0002789512,0.00002099057,0.00007107007,0.01975501,0.00003900938,0.001924329],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005065011,"threshold_uncertainty_score":0.0100711,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02234487381587402,"score_gpt":0.2920521837679291,"score_spread":0.2697073099520551,"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."}}