{"id":"W3175818500","doi":"10.1002/ajmg.a.62389","title":"Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute for Clinical Evaluative Sciences; Children's Hospital of Eastern Ontario; Trillium Health Centre; University of Toronto; SickKids Foundation; University of Ottawa; Hospital for Sick Children","funders":"","keywords":"Exome sequencing; Biology; Genetics; Deep sequencing; Exome; DNA sequencing; Genome; In silico; RNA splicing; Computational biology; Exon; Gene; Phenotype; RNA","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":[0.0004857683,0.0008550724,0.0002696426,0.00103252,0.0007072931,0.0009004561,0.0005248204,0.002284132,0.00107973],"category_scores_gemma":[0.002226494,0.0003544865,0.0003126802,0.0005667023,0.0007592816,0.0004610952,0.0006432474,0.001189896,0.0005268091],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003979801,"about_ca_system_score_gemma":0.0003756052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001170208,"about_ca_topic_score_gemma":0.001761516,"domain_scores_codex":[0.9994742,0.00008539959,0.00006026436,0.0001702415,0.0001155352,0.0000943324],"domain_scores_gemma":[0.9986583,0.0006320846,0.0002137261,0.0001013573,0.0001126481,0.0002819816],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001034224,0.00007462069,0.04843087,0.00006148858,0.00002522057,0.8995079,0.0006522579,0.0004397638,0.03262807,0.001123787,0.002159737,0.01479286],"study_design_scores_gemma":[0.00001096215,0.00005702565,0.01023531,0.00002657575,0.00002430631,0.9805933,0.0002195295,0.001302225,0.004774089,0.0007892121,0.001954843,0.00001270096],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9763574,0.001185273,0.01090817,0.004661457,0.0001003949,0.00008428597,0.0002958963,0.0002543757,0.006152739],"genre_scores_gemma":[0.9905173,0.000610501,0.006906903,0.001091229,0.0001204953,0.00001479933,0.0001402582,0.00006073288,0.0005378355],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002284132,"threshold_uncertainty_score":0.003612101,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0660890176363757,"score_gpt":0.3173502260824526,"score_spread":0.2512612084460769,"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."}}