{"id":"W4392589414","doi":"10.1016/j.gimo.2024.101596","title":"P692: Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vitalité Health Network; Université de Moncton; Université de Sherbrooke","funders":"","keywords":"Spinocerebellar ataxia; Genetics; Identification (biology); Biology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000166738,0.001403857,0.0003674555,0.0008594175,0.0006524903,0.0004456029,0.0007708159,0.002677903,0.003476193],"category_scores_gemma":[0.0009419521,0.0003542105,0.0006795838,0.0006383135,0.0005170223,0.000245416,0.0005070596,0.0009082798,0.001348648],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003717694,"about_ca_system_score_gemma":0.0003058352,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00210863,"about_ca_topic_score_gemma":0.002382743,"domain_scores_codex":[0.9996595,0.00004564521,0.00004447517,0.00009363011,0.0001044891,0.00005217348],"domain_scores_gemma":[0.9993026,0.0002316207,0.0001964442,0.00002557722,0.00006497458,0.0001788196],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002913237,0.0001778426,0.00762674,0.00008021884,0.00005652034,0.903483,0.0003539444,0.0002255269,0.0826783,0.0004549331,0.0007736721,0.003797949],"study_design_scores_gemma":[0.0001592549,0.0006137433,0.07066596,0.0001157902,0.00009891352,0.8928155,0.0003799808,0.002040814,0.02619225,0.0003767248,0.006464891,0.00007610997],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898477,0.000703815,0.002565952,0.0008772775,0.0002870106,0.0001623237,0.001178924,0.0001484979,0.004228581],"genre_scores_gemma":[0.9950811,0.0002347238,0.001589403,0.0004984927,0.0001424987,0.00002204459,0.0004869251,0.00006169271,0.001883143],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003476193,"threshold_uncertainty_score":0.01162905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05115066964593987,"score_gpt":0.3443479235556834,"score_spread":0.2931972539097435,"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."}}