{"id":"W4416411161","doi":"10.1016/j.xhgg.2025.100547","title":"Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies","year":2025,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Health Sciences Centre","funders":"Canadian Institutes of Health Research; Natural Sciences and Engineering Research Council of Canada; Canada Research Chairs; Research Manitoba","keywords":"Gene; Druggability; Disease; Human genetics; Trait; Candidate gene; Phenotype; Drug discovery","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":[],"consensus_categories":[],"category_scores_codex":[0.00007021025,0.0002132516,0.0002437005,0.0001597371,0.0003536669,0.0001197764,0.0001881,0.00004740885,0.0000116449],"category_scores_gemma":[0.00001765974,0.0001983746,0.00003394542,0.0001573192,0.0003081863,0.00004695234,0.0001649723,0.00005337271,7.135314e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003514278,"about_ca_system_score_gemma":0.00004727862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005958303,"about_ca_topic_score_gemma":0.00004451371,"domain_scores_codex":[0.9987198,0.00008714244,0.0003475282,0.0005198859,0.00009435719,0.0002312541],"domain_scores_gemma":[0.9994839,0.00006692865,0.0001231812,0.0002113594,0.0000343369,0.00008024753],"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":[0.00001596302,0.00004176082,0.005964237,0.00003399483,0.00000848849,8.541729e-7,0.0001738616,0.0005183065,0.9716837,0.01794416,0.000001239974,0.003613445],"study_design_scores_gemma":[0.000602487,0.0004056362,0.1497123,0.00002511042,0.000039838,0.000002307449,0.0007554509,0.0003675407,0.8261688,0.01797521,0.003597934,0.0003473921],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905731,0.002981646,0.005598254,0.00009801734,0.00008164151,0.0003773644,0.0000640912,0.00002095211,0.0002049438],"genre_scores_gemma":[0.9959391,0.003159106,0.0003309975,0.0003795038,0.00003390885,0.00001818584,0.00001324788,0.00001809983,0.0001078564],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1455148,"threshold_uncertainty_score":0.8089482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06120651286620084,"score_gpt":0.3189898649513778,"score_spread":0.257783352085177,"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."}}