{"id":"W4414799915","doi":"10.21203/rs.3.rs-7634112/v1","title":"Exome sequencing uncovers phenotypic and genotypic heterogeneity in 198 Indian families evaluated for autoinflammatory disorders","year":2025,"lang":"en","type":"preprint","venue":"Research Square","topic":"Inflammasome and immune disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"ASTER","funders":"The Wellcome Trust DBT India Alliance; Department of Biotechnology, Ministry of Science and Technology, India; Wellcome Trust","keywords":"Exome sequencing; Hepatosplenomegaly; Phenotype; Genetic heterogeneity; Exome; Genotype; Genotype-phenotype distinction; DNA sequencing","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":[0.0001877863,0.0006916582,0.0003185126,0.001701452,0.0009471312,0.0008161589,0.0006191455,0.0005093315,0.003761347],"category_scores_gemma":[0.001596402,0.0003362013,0.0003908342,0.001355669,0.0007424774,0.0001959934,0.0007226776,0.000389686,0.0003963348],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003137433,"about_ca_system_score_gemma":0.0003356519,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00631166,"about_ca_topic_score_gemma":0.004279115,"domain_scores_codex":[0.9995899,0.00005404419,0.00003699664,0.0001302018,0.00008409854,0.0001048098],"domain_scores_gemma":[0.999477,0.0002353489,0.0001105326,0.00005446866,0.00004078258,0.00008188388],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001414429,0.0002583963,0.7574153,0.0001069583,0.0002085194,0.1306303,0.007945019,0.0008331054,0.07616667,0.001000312,0.001081261,0.0229397],"study_design_scores_gemma":[0.00004434496,0.0001377866,0.9022214,0.00005312116,0.0002542083,0.08430669,0.002936784,0.0006480524,0.005690656,0.0005291752,0.003130312,0.00004746815],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984733,0.00006053776,0.0001609406,0.00003844218,0.000004244136,0.000006552366,0.0003529374,0.000008735435,0.0008942777],"genre_scores_gemma":[0.9990759,0.0000762017,0.0001703157,0.00003238553,0.000006399065,0.00000768057,0.0002635348,0.00001254719,0.0003549198],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00631166,"threshold_uncertainty_score":0.01258296,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03229477729299284,"score_gpt":0.3575743420575213,"score_spread":0.3252795647645285,"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."}}