{"id":"W2765240614","doi":"10.1002/ajmg.b.32606","title":"OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia","year":2017,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Canadian Institutes of Health Research","keywords":"C9orf72; Amyotrophic lateral sclerosis; Frontotemporal dementia; Trinucleotide repeat expansion; Phenotype; Genetics; Biology; Disease; Gene; Dementia; Medicine; Pathology; 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":[0.0004292334,0.001765868,0.0004459711,0.001705705,0.001355825,0.000484838,0.0004032249,0.001132817,0.00226232],"category_scores_gemma":[0.001067471,0.0003845598,0.0004341744,0.0009575502,0.0008316019,0.0002787465,0.0006960987,0.0005422757,0.0002888586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004911031,"about_ca_system_score_gemma":0.0002902857,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004086348,"about_ca_topic_score_gemma":0.00411054,"domain_scores_codex":[0.9995421,0.0001068836,0.00005282448,0.0001449387,0.0000876298,0.00006569826],"domain_scores_gemma":[0.9995965,0.0001273129,0.0001245032,0.00001886904,0.00003152571,0.0001011955],"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":[0.001889288,0.0005731154,0.4541812,0.0001129634,0.0001868961,0.4861085,0.003047731,0.0006370611,0.03855253,0.0004455707,0.0008555101,0.01340954],"study_design_scores_gemma":[0.0001565166,0.0006238612,0.5940537,0.00007481449,0.0002318517,0.3960759,0.0007669852,0.001318333,0.004591861,0.0004426214,0.001609123,0.00005433213],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985657,0.0001986839,0.0002880748,0.0000958824,0.0000109235,0.000013522,0.0000726607,0.00001070084,0.0007438973],"genre_scores_gemma":[0.9987246,0.0001440247,0.000326514,0.00008803329,0.00002421839,0.000009342019,0.00008094012,0.000005782199,0.0005965792],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004086348,"threshold_uncertainty_score":0.008125126,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02552379867247135,"score_gpt":0.2905664515071328,"score_spread":0.2650426528346615,"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."}}