{"id":"W3012282232","doi":"10.1186/s12920-020-0669-2","title":"Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias","year":2020,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":88,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials; Western University","funders":"Canadian Institutes of Health Research; Genome Canada; Heart and Stroke Foundation of Canada","keywords":"Dyslipidemia; Single-nucleotide polymorphism; Genetics; Familial hypercholesterolemia; Human genetics; Bioinformatics; Biology; Precision medicine; Hypertriglyceridemia; Computational biology; Medicine; Gene; Disease; Cholesterol; Internal medicine; Triglyceride; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.05494477,0.001152321,0.0007880845,0.002381577,0.00096756,0.003264736,0.001818474,0.00168681,0.005017326],"category_scores_gemma":[0.04126702,0.0007310657,0.001446628,0.001866345,0.001536287,0.002837369,0.004342724,0.003687723,0.002997488],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001158596,"about_ca_system_score_gemma":0.001767503,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001276555,"about_ca_topic_score_gemma":0.002250978,"domain_scores_codex":[0.9831021,0.009193981,0.001104358,0.002960794,0.003048643,0.0005901878],"domain_scores_gemma":[0.9537794,0.02309182,0.001843964,0.004640155,0.0098363,0.006808355],"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":[0.002897464,0.0009087092,0.1865715,0.001115372,0.001447925,0.003389379,0.005470208,0.002073247,0.02973433,0.004214175,0.09961101,0.6625667],"study_design_scores_gemma":[0.001111231,0.006452479,0.1955038,0.00320725,0.001871431,0.02780647,0.004776235,0.01239451,0.04131051,0.02087845,0.6837174,0.0009701429],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4187337,0.08787724,0.3171286,0.1003357,0.008204278,0.001397006,0.01129975,0.008717851,0.04630583],"genre_scores_gemma":[0.4876892,0.03304271,0.3817924,0.05398267,0.008193785,0.001796097,0.01310639,0.004543479,0.01585334],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05494477,"threshold_uncertainty_score":0.2905792,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1559271603010949,"score_gpt":0.3786544545810262,"score_spread":0.2227272942799313,"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."}}