{"id":"W1973803664","doi":"10.1186/1471-2350-8-79","title":"Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol","year":2007,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal Victoria Hospital; McGill University Health Centre; Royal Victoria Regional Health Centre","funders":"Canadian Institutes of Health Research; McGill University; Heart and Stroke Foundation of Canada","keywords":"Acid sphingomyelinase; Haplotype; Cholesterol; Endocrinology; Allele; Biology; Internal medicine; Allele frequency; Genetics; High-density lipoprotein; Locus (genetics); Sphingomyelin; Gene; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.002570257,0.0003107537,0.0007989242,0.0002108255,0.00010763,0.0000387844,0.0004670695,0.0004253197,0.0007986256],"category_scores_gemma":[0.005230929,0.0002793724,0.0001510275,0.0005068613,0.0002579008,0.00004439753,0.0003971976,0.0005881011,0.000164756],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001667456,"about_ca_system_score_gemma":0.0006461281,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007512087,"about_ca_topic_score_gemma":0.0009866073,"domain_scores_codex":[0.9948867,0.0001445264,0.0009365287,0.0005940902,0.002525878,0.000912269],"domain_scores_gemma":[0.9965267,0.0006478797,0.0001707645,0.000737356,0.0005350043,0.001382336],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.006020214,0.002156615,0.1010605,0.003081216,0.0005034271,0.002126963,0.002488697,0.0001625461,0.1763853,0.0006130679,0.002263443,0.703138],"study_design_scores_gemma":[0.006549259,0.0007573399,0.7231313,0.0009812666,0.00008648016,0.0001115199,0.0001725122,0.0007083284,0.2662249,0.00009191854,0.0008202675,0.0003648925],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8990141,0.000362138,0.09796807,0.0009540121,0.0003446577,0.001079059,0.00005987092,0.00005809335,0.0001600223],"genre_scores_gemma":[0.9867682,0.000112934,0.01020226,0.001920398,0.0005167064,0.00001872989,0.00001850924,0.00005536051,0.000386887],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7027731,"threshold_uncertainty_score":0.9999658,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03818043963585581,"score_gpt":0.323365732681254,"score_spread":0.2851852930453981,"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."}}