{"id":"W3213516688","doi":"10.1055/s-0041-1736610","title":"The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes","year":2021,"lang":"en","type":"article","venue":"Journal of Pediatric Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre","funders":"","keywords":"Exome sequencing; Genetics; Exome; Biology; Computational biology; Whole genome sequencing; DNA sequencing; RNA-Seq; Gene; Phenotype; RNA; Genome; Bioinformatics; Transcriptome; Gene expression","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":[],"consensus_categories":[],"category_scores_codex":[0.0002511432,0.0001226665,0.0002119626,0.00004866866,0.00007795644,0.0000256317,0.0002520725,0.00006575595,0.000003058151],"category_scores_gemma":[0.0002685913,0.00007064708,0.00008907753,0.0001831876,0.0001147437,0.000004448525,0.0001067489,0.0001391262,2.308736e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001506723,"about_ca_system_score_gemma":0.0002620301,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006924159,"about_ca_topic_score_gemma":0.00001993243,"domain_scores_codex":[0.9988331,0.0001629616,0.0004433552,0.0001496452,0.0002401339,0.0001708438],"domain_scores_gemma":[0.9987172,0.0001967349,0.0004572049,0.0001984584,0.0003686039,0.00006172313],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000463964,0.0006513558,0.8517936,0.0001156508,0.0002199744,0.000126432,0.001641578,0.01239391,0.1291028,0.00002564976,0.0002621054,0.003202917],"study_design_scores_gemma":[0.001676549,0.001565565,0.9896809,0.00001195747,0.0002172798,0.00004236337,0.001049248,0.00006978987,0.004473351,0.0001780365,0.0008781062,0.0001567807],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943911,0.005142769,0.00005423488,0.0001626931,0.00005479125,0.0001179587,0.00005208104,6.617088e-7,0.00002374988],"genre_scores_gemma":[0.9962353,0.002504789,0.0008901295,0.0001133862,0.0002216832,0.000002512443,0.00001554304,0.00001102446,0.000005608225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1378874,"threshold_uncertainty_score":0.2880904,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01956100056585747,"score_gpt":0.2361058970880875,"score_spread":0.21654489652223,"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."}}