{"id":"W2732662477","doi":"10.1159/000477428","title":"A Novel Homozygous <b><i>SACS</i></b> Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","year":2017,"lang":"en","type":"article","venue":"Cytogenetic and Genome Research","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Natural Science Foundation of China","keywords":"Frameshift mutation; Exome sequencing; Genetics; Biology; Ataxia; Mutation; Exome; Cerebellar ataxia; Disease gene identification; Gene; Neuroscience","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","sts"],"consensus_categories":[],"category_scores_codex":[0.001090352,0.000718444,0.0009190327,0.0008778578,0.001304999,0.0007001464,0.001636433,0.0002676822,0.00008993936],"category_scores_gemma":[0.002532798,0.0006836782,0.0001535724,0.0009927624,0.002616602,0.0003347963,0.0007954058,0.0005830667,0.0001317435],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003391378,"about_ca_system_score_gemma":0.001291421,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001296178,"about_ca_topic_score_gemma":0.0006147919,"domain_scores_codex":[0.9920666,0.0008931098,0.001005131,0.002129623,0.002168468,0.001737098],"domain_scores_gemma":[0.9952564,0.0008341118,0.0006239815,0.001725058,0.0008374164,0.000723069],"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":[0.0003692125,0.0002736461,0.0007874108,0.000251956,0.00004725932,0.0009431207,0.001024127,0.001233594,0.9933965,0.0001987243,0.0003273999,0.001147011],"study_design_scores_gemma":[0.006453437,0.002204743,0.1759445,0.000558996,0.0001676528,0.0008630324,0.0003713658,0.004971479,0.803987,0.000505368,0.002425568,0.001546835],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884864,0.005667003,0.001161241,0.0002799522,0.0001894509,0.001959494,0.0009197667,0.00006423065,0.001272479],"genre_scores_gemma":[0.9944278,0.0007943988,0.0003983255,0.000114136,0.0001583498,0.0003695535,0.00007266946,0.000144707,0.003520034],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1894095,"threshold_uncertainty_score":0.9999952,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06767347500330087,"score_gpt":0.3181652614043096,"score_spread":0.2504917864010087,"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."}}