{"id":"W4388693158","doi":"10.1002/mds.29651","title":"Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design","year":2023,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Biotechnology and Biological Sciences Research Council; H2020 Excellent Science; John Fell Fund, University of Oxford; Orionin Tutkimussäätiö; Medical Research Council; Henry Smith Charity; European Commission; University of Oxford; Ataxia UK; Parkinson's UK; Sigrid Juséliuksen Säätiö; Department of Health and Social Care; Lastentautien Tutkimussäätiö; Cancer Research UK; Ipsen; Action Medical Research; Stiftelsen Alma och K. A. Snellman Säätiö; Alzheimer Society; UK Research and Innovation; National Institute for Health and Care Research; LifeArc; NIHR Oxford Biomedical Research Centre; Wellcome Trust","keywords":"Missense mutation; Computational biology; Computer science; Genetics; Biology; Mutation; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003067456,0.0002200938,0.0004873938,0.0004172191,0.00007723808,0.00001592692,0.0001030638,0.00009917901,0.00009360309],"category_scores_gemma":[0.0006580584,0.0001745069,0.000198415,0.001748785,0.0001330982,0.00003031925,0.00007057915,0.0001199202,0.00002409203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000115749,"about_ca_system_score_gemma":0.00003178871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005553121,"about_ca_topic_score_gemma":0.00006590353,"domain_scores_codex":[0.9984093,0.0001020111,0.0003898588,0.0003662636,0.0003532826,0.0003792717],"domain_scores_gemma":[0.9982062,0.001189963,0.0001205068,0.0002777077,0.00005616857,0.0001494372],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002069499,0.001072854,0.9432152,0.0002685719,0.004047777,0.000145982,0.001082447,0.004350975,0.00674842,0.0008113973,0.02531272,0.01273671],"study_design_scores_gemma":[0.001687356,0.0008591809,0.9630298,0.00001361515,0.003061077,4.11405e-7,0.0007535164,0.01343034,0.0003056403,0.01572776,0.001010863,0.000120425],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924377,0.001907642,0.001501037,0.001789627,0.00008855435,0.0006074672,0.00003146853,0.0001281937,0.001508283],"genre_scores_gemma":[0.9844795,0.008563139,0.000230826,0.005803202,0.00002120472,0.00004618971,0.00005301476,0.00002647363,0.0007764398],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02430186,"threshold_uncertainty_score":0.7116185,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0285924868221669,"score_gpt":0.2641098028060098,"score_spread":0.2355173159838428,"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."}}