{"id":"W4401587792","doi":"10.1101/2024.08.13.607763","title":"Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and <i>Drosophila</i>","year":2024,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Sunnybrook Health Science Centre; University of British Columbia","funders":"","keywords":"MECP2; Rett syndrome; Missense mutation; Genetics; Biology; DNA methylation; Autism spectrum disorder; Autism; Mutation; Function (biology); Computational biology; Gene; Medicine; Phenotype","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":[0.0001675594,0.0004155502,0.0001585553,0.0006113339,0.0001819985,0.0002297596,0.0001381687,0.0003134649,0.0008936406],"category_scores_gemma":[0.0002826694,0.0001221119,0.0002721089,0.0003293774,0.0002172934,0.00005361441,0.0002810206,0.0002510355,0.0001656261],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001551363,"about_ca_system_score_gemma":0.00007424561,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003248575,"about_ca_topic_score_gemma":0.002309349,"domain_scores_codex":[0.9998525,0.00001923899,0.00001780369,0.00005440231,0.00003501207,0.00002103552],"domain_scores_gemma":[0.9998826,0.00003728296,0.00003239858,0.00001247892,0.00001405404,0.00002119263],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00066861,0.00006193943,0.1207507,0.00006172697,0.0001251246,0.004245897,0.0003738735,0.0007921619,0.864939,0.0002856917,0.0002940821,0.007401023],"study_design_scores_gemma":[0.00004099158,0.0006525182,0.4643455,0.00002469951,0.0001540484,0.01945287,0.0007244676,0.004622868,0.5065934,0.0003006478,0.00305527,0.00003260609],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977819,0.0001254427,0.001121915,0.00003176072,0.000005000574,0.000006933617,0.0006419242,0.00004174553,0.000243349],"genre_scores_gemma":[0.9978687,0.00006919116,0.001388731,0.00002382978,0.000001285949,0.000003343861,0.0004314396,0.00001481419,0.0001986809],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003248575,"threshold_uncertainty_score":0.006459355,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00910568387527372,"score_gpt":0.2119489673359344,"score_spread":0.2028432834606607,"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."}}