{"id":"W4389626496","doi":"10.1016/j.ajhg.2023.11.007","title":"Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases","year":2023,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":false,"ca_institutions":"Mount Sinai Hospital","funders":"National Institute of Mental Health; National Institutes of Health","keywords":"Genetics; Mendelian inheritance; Biology; Exome sequencing; Gene; Phenotype; Candidate gene; Allele; Mutation; Nonsense mutation; Missense mutation","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":[0.000713373,0.0006168108,0.0006733355,0.002585113,0.0006510625,0.0006793885,0.0005023077,0.0007997238,0.002656859],"category_scores_gemma":[0.001679807,0.0002350399,0.0009784438,0.001664573,0.0004363288,0.0001500561,0.0004927391,0.000646037,0.000549635],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002277615,"about_ca_system_score_gemma":0.000375727,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001206282,"about_ca_topic_score_gemma":0.004703771,"domain_scores_codex":[0.999097,0.0001497324,0.0001260211,0.0003393207,0.0001971795,0.0000907243],"domain_scores_gemma":[0.9982522,0.000815329,0.0004837575,0.0001583159,0.0001162279,0.0001741569],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002951293,0.0002090965,0.2672073,0.0004231698,0.002358712,0.01195993,0.0003547342,0.001341897,0.6682648,0.001544263,0.001304446,0.04208046],"study_design_scores_gemma":[0.0004547392,0.001090643,0.8570659,0.0002134031,0.004232821,0.02861578,0.0004611372,0.008536877,0.08331764,0.001849064,0.01404606,0.000115977],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903437,0.0009553747,0.004892192,0.0001019265,0.00004512171,0.00004562887,0.002410282,0.0001864347,0.001019404],"genre_scores_gemma":[0.9945984,0.0002575224,0.003223764,0.0001399329,0.0000208559,0.00001345,0.001312811,0.00008662821,0.0003466563],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002656859,"threshold_uncertainty_score":0.008888066,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01006917651667126,"score_gpt":0.2604550028690145,"score_spread":0.2503858263523432,"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."}}