{"id":"W7053464413","doi":"","title":"Whole exome sequencing to uncover the genetic etiology of a cohort of patients with suspected mitochondrial leukoencephalopathies","year":2019,"lang":"en","type":"dissertation","venue":"eScholarship@McGill (McGill)","topic":"Laser Design and Applications","field":"Engineering","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Exome sequencing; Etiology; Cohort; Exome; Genetic testing; Mutation; Disease; Cohort study","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":[0.0003569864,0.0003864316,0.0002418016,0.0007147476,0.0006363975,0.0006389734,0.0002638748,0.0005717457,0.002600391],"category_scores_gemma":[0.001698371,0.0001759418,0.0002944334,0.0004775044,0.0001704666,0.0002606828,0.0003832242,0.0004763935,0.0005493613],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002940811,"about_ca_system_score_gemma":0.0003135339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003485902,"about_ca_topic_score_gemma":0.005505813,"domain_scores_codex":[0.999855,0.00002013803,0.00001111013,0.00005896506,0.00002822943,0.00002649104],"domain_scores_gemma":[0.9997399,0.0001000597,0.00003339804,0.00002050242,0.00005065236,0.00005550736],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006087702,0.0001677805,0.9447735,0.0000290742,0.0001255629,0.004738917,0.0009752174,0.0003494743,0.01644326,0.0003156572,0.005673881,0.02579891],"study_design_scores_gemma":[0.00004651603,0.0001988373,0.9843652,0.00005382077,0.0001116141,0.006515915,0.0009755983,0.0006722422,0.001595422,0.000537246,0.004909332,0.00001808618],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996666,0.0004409262,0.0002343203,0.0005643789,0.0000258231,0.00001323138,0.0007488922,0.00001135135,0.00129512],"genre_scores_gemma":[0.995972,0.0005629951,0.0006052052,0.0003265357,0.00004146807,0.000017175,0.0008747083,0.00001561742,0.001584328],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003485902,"threshold_uncertainty_score":0.008699238,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007465221199773226,"score_gpt":0.1955529255306387,"score_spread":0.1880877043308655,"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."}}