{"id":"W6921009026","doi":"10.6084/m9.figshare.23936301","title":"Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants","year":2023,"lang":"en","type":"article","venue":"Figshare","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Turnaround time; Genotyping; Pipeline (software); Sequence (biology); Copy-number variation; Sample (material); Genome; Molecular diagnostics; Human genome","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":[0.01064143,0.0005892208,0.0006427952,0.001140156,0.0005492074,0.001142359,0.0007786516,0.0008623821,0.00249616],"category_scores_gemma":[0.01216679,0.0004893239,0.0005028687,0.0006340916,0.000901814,0.0004717982,0.001715032,0.0006415484,0.001336323],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006010151,"about_ca_system_score_gemma":0.001067963,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001497027,"about_ca_topic_score_gemma":0.002300179,"domain_scores_codex":[0.9924986,0.002091085,0.0005406172,0.002324531,0.002190327,0.0003548323],"domain_scores_gemma":[0.9918302,0.003346451,0.0005575738,0.002071008,0.001902751,0.0002920087],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.007578892,0.0005603249,0.3455481,0.000803486,0.001007893,0.002186299,0.001849508,0.01843259,0.4079264,0.002688911,0.008807525,0.2026101],"study_design_scores_gemma":[0.0007717069,0.005074438,0.4003246,0.0003094375,0.0008790825,0.01090109,0.0006479716,0.07501876,0.4564669,0.003156383,0.04620177,0.0002477134],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.8694558,0.001080609,0.116377,0.0005862155,0.0001135791,0.0009183426,0.006332206,0.001458311,0.003677927],"genre_scores_gemma":[0.8997352,0.0002600008,0.08635722,0.0004250049,0.00003916888,0.0006360727,0.01030218,0.0002936173,0.001951673],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.01064143,"threshold_uncertainty_score":0.05627793,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09121734682712697,"score_gpt":0.3268842164099284,"score_spread":0.2356668695828015,"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."}}