{"id":"W2519012620","doi":"10.1016/j.mito.2015.07.121","title":"Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases","year":2015,"lang":"en","type":"article","venue":"Mitochondrion","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University Medical Centre","funders":"","keywords":"Exome sequencing; Mitochondrial DNA; Mitochondrial disease; Exome; Biology; Computational biology; Genetics; DNA sequencing; Genome; Gene; Mutation","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001946952,0.0005345063,0.0006670604,0.0002135775,0.0001983076,0.00009008512,0.0003884497,0.0006043884,0.00003864064],"category_scores_gemma":[0.001082117,0.0005552266,0.0003388503,0.0002417123,0.0002614191,0.00004465756,0.0002550035,0.0002479807,0.00002654448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00014709,"about_ca_system_score_gemma":0.0004389093,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005595317,"about_ca_topic_score_gemma":0.0008422168,"domain_scores_codex":[0.9967387,0.0002698364,0.0007559163,0.001207905,0.0003822891,0.0006453643],"domain_scores_gemma":[0.9978632,0.0001815738,0.0003759852,0.0008349725,0.0003268633,0.0004173825],"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":[0.0007809856,0.00008499917,0.0007188094,0.00004258329,0.0001178326,0.0000243089,0.0005423466,0.0007338042,0.9912281,0.0001290866,0.004718526,0.0008786336],"study_design_scores_gemma":[0.009895791,0.003473605,0.0003368744,0.0001837298,0.0004345915,0.0001697165,0.0025222,0.0005311563,0.6750801,0.003279507,0.3024419,0.001650831],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9244065,0.003482002,0.0637322,0.0008993295,0.004238824,0.001643087,0.001171411,0.00007520543,0.0003514262],"genre_scores_gemma":[0.9032052,0.000578724,0.08007679,0.0009920034,0.006414894,0.001504375,0.004681007,0.0003135447,0.002233482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.316148,"threshold_uncertainty_score":0.9996899,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03934223344084319,"score_gpt":0.2810726485176982,"score_spread":0.241730415076855,"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."}}