{"id":"W4390584565","doi":"10.3389/fgene.2023.1304711","title":"Integration of multi-omics technologies for molecular diagnosis in ataxia patients","year":2024,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; Université de Montréal","funders":"Courtois Foundation; Alliance de recherche numérique du Canada; National Ataxia Foundation; Université de Montréal; Génome Québec; McGill University","keywords":"Spinocerebellar ataxia; Genetics; Trinucleotide repeat expansion; Biology; Whole genome sequencing; Missense mutation; Computational biology; DNA sequencing; Mendelian inheritance; Genomics; RNA splicing; Genome; Bioinformatics; Phenotype; Gene; RNA; Allele","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004387002,0.001011243,0.00149327,0.003165675,0.0005740898,0.002328111,0.0007423363,0.000971877,0.001727275],"category_scores_gemma":[0.005342714,0.0003754159,0.001257351,0.001819235,0.0003808133,0.0007485186,0.001987102,0.001390859,0.0008327331],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007721411,"about_ca_system_score_gemma":0.0008506561,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009392679,"about_ca_topic_score_gemma":0.001618392,"domain_scores_codex":[0.9975999,0.0008961964,0.0002528542,0.0005984568,0.0004852701,0.0001672501],"domain_scores_gemma":[0.9959533,0.002007314,0.0005265216,0.0005543315,0.0006904674,0.0002679331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002525069,0.0005012968,0.4528104,0.002152483,0.002337863,0.004071859,0.001536857,0.01271075,0.2006741,0.00400673,0.0127451,0.3039274],"study_design_scores_gemma":[0.0004871331,0.001967986,0.5362435,0.002109258,0.003234228,0.01371621,0.002696658,0.1231511,0.1630332,0.04379165,0.109162,0.0004071007],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7283351,0.02305239,0.196647,0.008193077,0.0007120153,0.000903161,0.03072883,0.002802389,0.008625995],"genre_scores_gemma":[0.7672583,0.005654834,0.2056175,0.003284367,0.0004695143,0.0008508376,0.01527739,0.0003856948,0.001201563],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004387002,"threshold_uncertainty_score":0.02320099,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0244188002838687,"score_gpt":0.2753205742481177,"score_spread":0.250901773964249,"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."}}