{"id":"W3113246065","doi":"10.1002/ajmg.a.61998","title":"Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a <scp>Canadian</scp> population","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; London Health Sciences Centre; Western University","funders":"","keywords":"Mitochondrial DNA; Genetics; Computational biology; DNA sequencing; Copy-number variation; Biology; Population; DNA; Medicine; Genome; Gene; Environmental health","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.002449947,0.0008671477,0.0004090897,0.001155569,0.001502385,0.00110478,0.0009022274,0.0007293591,0.001600723],"category_scores_gemma":[0.0044061,0.0003129063,0.0003905428,0.0007931273,0.0009742902,0.0002184984,0.0006387408,0.000657822,0.0005928201],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005321763,"about_ca_system_score_gemma":0.004779451,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5904365,"about_ca_topic_score_gemma":0.6238489,"domain_scores_codex":[0.996727,0.0003310944,0.0001257102,0.0007820139,0.001706236,0.0003279306],"domain_scores_gemma":[0.9983087,0.0003213461,0.0001386384,0.0001257933,0.0008747969,0.0002307052],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001274386,0.0004370819,0.7451026,0.0001705187,0.0003138888,0.001974704,0.002284184,0.003691157,0.1439846,0.001247167,0.009637726,0.08988194],"study_design_scores_gemma":[0.0001251431,0.001040566,0.8854815,0.00007519291,0.0002614356,0.00582352,0.0007443888,0.01127835,0.0771357,0.0002381729,0.0176869,0.0001091011],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.982653,0.0007005067,0.006508015,0.000535791,0.0000416563,0.0002686488,0.002687071,0.0002600799,0.006345195],"genre_scores_gemma":[0.9879827,0.0002858631,0.007988851,0.0002662581,0.0000189314,0.00006888382,0.001802814,0.00005030884,0.001535202],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4095635,"threshold_uncertainty_score":0.8239509,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04941040949883251,"score_gpt":0.293664482283508,"score_spread":0.2442540727846755,"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."}}