{"id":"W3184253966","doi":"10.1016/j.ymthe.2021.07.007","title":"Genetic diseases in the omics era","year":2021,"lang":"en","type":"letter","venue":"Molecular Therapy","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Omics; Computational biology; Proteomics; Biology; Epigenomics; Disease; Transcriptome; Bioinformatics; Gene; Genetics; Medicine; Gene expression; Pathology; DNA methylation","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00006693172,0.000314748,0.0002463552,0.00004980645,0.00006173444,0.00004273976,0.0005717093,0.0006449551,0.00005513183],"category_scores_gemma":[0.00002655767,0.0002467135,0.0002712464,0.0001160535,0.0001184478,0.000001235597,0.00006830396,0.0006575105,0.00001375265],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008428811,"about_ca_system_score_gemma":0.0001388282,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000223394,"about_ca_topic_score_gemma":0.000008520195,"domain_scores_codex":[0.9982616,0.0004469269,0.0002035869,0.0005494766,0.0001794271,0.0003589488],"domain_scores_gemma":[0.9989326,0.00002399202,0.00007710456,0.0008999319,0.00003958619,0.00002677828],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00017537,0.0002353087,0.0008966738,0.00006359798,0.0003264575,0.001358708,0.0001155632,0.0002023319,0.1487474,0.00003754913,0.8410248,0.006816337],"study_design_scores_gemma":[0.0008218753,0.0002139094,0.005038516,0.00001424764,0.00002839183,0.00002592917,0.00003419681,0.000007341719,0.006363642,0.0009493132,0.986039,0.0004636159],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.6870509,0.05932401,0.0006982037,0.2502315,0.0005032232,0.0008526055,0.0001130901,0.00002391281,0.001202596],"genre_scores_gemma":[0.09415268,0.003724679,0.0001169192,0.8980271,0.001180016,0.0001641495,0.002333685,0.00007460608,0.000226208],"genre_candidate":"commentary","genre_consensus":null,"teacher_disagreement_score":0.6477956,"threshold_uncertainty_score":0.9999985,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008717826461035989,"score_gpt":0.2315629076038236,"score_spread":0.2228450811427876,"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."}}