{"id":"W2549899067","doi":"10.14785/lymphosign-2016-0011","title":"Whole exome and genome sequencing for Mendelian immune disorders: from molecular diagnostics to new disease variant and gene discovery","year":2016,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Ontario Genomics","funders":"Hospital for Sick Children","keywords":"Exome sequencing; Exome; Mendelian inheritance; Computational biology; Biology; Genome; Genetics; DNA sequencing; Whole genome sequencing; Genomics; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001049752,0.0001979682,0.0001684905,0.00005297939,0.0001499789,0.0001629324,0.000158038,0.00006769712,0.00000773685],"category_scores_gemma":[0.0001463686,0.0001460154,0.0001001718,0.00003624618,0.0000462454,0.0000180071,0.0001415756,0.00003212858,0.000002224849],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004733444,"about_ca_system_score_gemma":0.0003031555,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005117411,"about_ca_topic_score_gemma":0.000008988434,"domain_scores_codex":[0.9989615,0.00002909946,0.0002394542,0.0003586478,0.0001027256,0.0003085845],"domain_scores_gemma":[0.9989985,0.00003719158,0.00009061423,0.0002353534,0.0000461528,0.0005922269],"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":[0.0002201675,0.00003006966,0.0006326342,0.000008241379,0.0001073458,0.00007082494,0.000072821,0.0000665491,0.9930596,0.00008417382,0.0003226822,0.005324875],"study_design_scores_gemma":[0.03321351,0.005207541,0.1552512,0.001176579,0.002083656,0.001800999,0.001551722,0.0004937491,0.4469662,0.1627443,0.1832594,0.006251046],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6960286,0.01524649,0.286993,0.0009637889,0.0001324092,0.0001946158,0.000431482,0.000004405061,0.000005135342],"genre_scores_gemma":[0.9868656,0.00599905,0.005717444,0.0006216804,0.0004816992,0.00002029054,0.00008495561,0.00004460585,0.0001646898],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5460934,"threshold_uncertainty_score":0.5954337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007107602807530526,"score_gpt":0.2106209277071404,"score_spread":0.2035133248996098,"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."}}