{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001700175,0.0001319751,0.0003162561,0.00002052218,0.0001202232,0.00002053076,0.0002794004,0.0003082538,0.00004378583],"category_scores_gemma":[0.009503486,0.0001169681,0.00007728751,0.00007531975,0.0004149099,0.000002948552,0.0002393039,0.0003592087,0.00001283494],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002525843,"about_ca_system_score_gemma":0.0006969072,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008576654,"about_ca_topic_score_gemma":0.00009818829,"domain_scores_codex":[0.9978634,0.0004130029,0.0004543745,0.0006216199,0.000238214,0.0004094281],"domain_scores_gemma":[0.9982679,0.0007900986,0.0001179484,0.0002322591,0.0001163557,0.0004754556],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00128252,0.0001064606,0.8684291,0.00009829336,0.000291052,0.00002974373,0.003237909,0.0005455738,0.06822553,0.0001895099,0.0308341,0.02673022],"study_design_scores_gemma":[0.01055543,0.005585953,0.2645499,0.000138217,0.000161785,0.00007745796,0.01127918,0.07233602,0.009976011,0.001127848,0.6225216,0.001690554],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9561481,0.0004643916,0.04197799,0.0009498959,0.0001141653,0.0002519973,0.00003329131,0.00001338062,0.00004679214],"genre_scores_gemma":[0.9553846,0.0004476634,0.03980268,0.002546274,0.001480946,0.0000574638,0.0001573433,0.00002966634,0.00009342331],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6038792,"threshold_uncertainty_score":0.9988399,"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."}}