{"id":"W4408502183","doi":"10.1016/j.gimo.2025.103013","title":"P644: Functional screening of SMARCD1 genetic variants implicated in neurodevelopmental disorders using a novel Drosophila-based humanized rescue assay","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Dalhousie University","funders":"","keywords":"Drosophila (subgenus); Biology; Computational biology; Medicine; Genetics; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004418897,0.0002042908,0.0003147722,0.0002457881,0.00007424141,0.00002015776,0.000522541,0.0001273644,0.00004458484],"category_scores_gemma":[0.0001434924,0.0002028332,0.000047463,0.0003937313,0.0001504663,0.000003526042,0.0004482506,0.0001245455,5.052448e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003672724,"about_ca_system_score_gemma":0.0004060641,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005207508,"about_ca_topic_score_gemma":0.0006904247,"domain_scores_codex":[0.9983908,0.00008620381,0.0005552571,0.0005132084,0.0001704238,0.0002840889],"domain_scores_gemma":[0.9993175,0.00003033014,0.0001111563,0.0003889799,0.00008355599,0.00006847771],"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":[0.0005170502,0.0003293723,0.1196208,0.00006575992,0.00007195968,0.000009799252,0.00005909732,0.02109905,0.8543443,0.00009997269,0.0002392563,0.003543527],"study_design_scores_gemma":[0.008584375,0.0002242271,0.9668914,0.000258514,0.0000520784,0.000009178297,0.0001723091,0.0132233,0.008496745,0.0004845802,0.001278721,0.0003245378],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9828306,0.0007606877,0.01443842,0.0003740769,0.0002034904,0.0006562716,0.00003066641,0.00000391875,0.0007018411],"genre_scores_gemma":[0.9862206,0.0001326377,0.01265912,0.000567022,0.00005627796,0.00003659244,0.0002248563,0.00002674249,0.00007614349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8472706,"threshold_uncertainty_score":0.8271297,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03492017864336411,"score_gpt":0.3096998492712367,"score_spread":0.2747796706278726,"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."}}