{"id":"W4402383749","doi":"10.20944/preprints202409.0522.v1","title":"Clinical Expression of Familial Hypercholesterolemia in Patients from France and French Canada Carrying Identical by Descent Pathogenic LDLR Gene Variants: a Proof-of-Concept Study","year":2024,"lang":"en","type":"preprint","venue":"Preprints.org","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Familial hypercholesterolemia; LDL receptor; Gene; Genetics; Expression (computer science); Medicine; Biology; Internal medicine; Cholesterol; Lipoprotein; Computer science","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005285179,0.0005350087,0.0004173912,0.000513529,0.001188402,0.0004727066,0.0002503652,0.0004418565,0.001663508],"category_scores_gemma":[0.0006320866,0.0001793165,0.0005095706,0.0004324214,0.0004736211,0.0001813143,0.0004310086,0.0002671851,0.0002253106],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002047899,"about_ca_system_score_gemma":0.001599239,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1461042,"about_ca_topic_score_gemma":0.09085569,"domain_scores_codex":[0.9996657,0.00006567543,0.00001974273,0.00007785982,0.00007243366,0.00009845784],"domain_scores_gemma":[0.9994895,0.00007466279,0.00009231696,0.00004261483,0.0001411676,0.0001595772],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004933507,0.001623031,0.9652691,0.00009076679,0.0003064145,0.003553027,0.001103236,0.0001270738,0.009266592,0.0001634879,0.0008176961,0.01274595],"study_design_scores_gemma":[0.0003602049,0.003373862,0.9892232,0.00001101453,0.0001386387,0.004231028,0.0006739202,0.0001860223,0.0004590084,0.00002341926,0.001299828,0.00001974136],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988758,0.0001502295,0.0001187527,0.00003012851,0.000005407621,0.00007091158,0.0001730611,0.000005189024,0.0005704727],"genre_scores_gemma":[0.9987115,0.0001200995,0.0002208691,0.00007287631,0.00001460423,0.00003990643,0.0004341693,0.000002045052,0.0003839388],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8538958,"threshold_uncertainty_score":0.2905077,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04974241041722643,"score_gpt":0.330968626998275,"score_spread":0.2812262165810485,"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."}}