{"id":"W3006877085","doi":"10.3390/genes11030239","title":"Genetic Modifiers and Rare Mendelian Disease","year":2020,"lang":"en","type":"review","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":172,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Canadian Institutes of Health Research","keywords":"Mendelian inheritance; Disease; Biology; Genomics; Genome; Genetics; Computational biology; Identification (biology); Phenotype; Gene; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00002413079,0.0003321268,0.0004907084,0.00004292673,0.00007578541,0.00004575794,0.0002213637,0.0001693964,0.00001601366],"category_scores_gemma":[0.00002330326,0.0002793492,0.0002980011,0.00006134983,0.00005979577,9.331087e-7,0.0002251293,0.00006590356,0.00002596777],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009046909,"about_ca_system_score_gemma":0.0003083158,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000366128,"about_ca_topic_score_gemma":0.000002202408,"domain_scores_codex":[0.9988466,0.00005625885,0.0002325499,0.00056963,0.00008113234,0.0002138473],"domain_scores_gemma":[0.9991232,0.000005295298,0.00009734162,0.0003636037,0.0000260912,0.0003844774],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001082477,0.00001486875,0.00001787357,0.003098886,0.0001582545,0.00009704356,0.000005763456,0.000004110665,0.00005622101,0.00001097997,0.001853951,0.9946712],"study_design_scores_gemma":[0.00008761914,0.00003774394,0.00002642693,0.0002466787,0.000460852,0.00003223924,0.00001009006,0.000007031821,0.00000753806,0.00002618445,0.9987189,0.000338704],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003168907,0.9985493,0.00003993906,0.00003424058,0.0001515358,0.000340737,0.0004737557,0.00001222614,0.00008137829],"genre_scores_gemma":[0.0002381987,0.9978776,0.0002063618,0.0001217606,0.0005161556,0.00007435757,0.0006212479,0.00006184247,0.0002824548],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9968649,"threshold_uncertainty_score":0.9999658,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02202013254618428,"score_gpt":0.2756598219958286,"score_spread":0.2536396894496443,"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."}}