{"id":"W2613570274","doi":"10.1038/s41598-017-02364-1","title":"Age-related penetrance of the C9orf72 repeat expansion","year":2017,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":150,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Aging; National Institute for Health and Care Research; AGE-WELL; National Institutes of Health; Colgate-Palmolive Company; Howard Hughes Medical Institute; American Association for Dental, Oral, and Craniofacial Research; Doris Duke Charitable Foundation; Foundation for the National Institutes of Health","keywords":"Penetrance; C9orf72; Frontotemporal dementia; Age of onset; Amyotrophic lateral sclerosis; Trinucleotide repeat expansion; Disease; Dementia; Medicine; Genetic counseling; Genetics; Biology; Internal medicine; Gene; Phenotype; Allele","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":[0.00132998,0.0001020758,0.0002293435,0.00006329552,0.0007591873,0.0001644891,0.0003437775,0.00008804427,0.0003375989],"category_scores_gemma":[0.0007849504,0.00005915538,0.000167248,0.0002029928,0.001218151,0.0001535456,0.0002630043,0.0002201647,0.00002797887],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005285769,"about_ca_system_score_gemma":0.0001959105,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001777158,"about_ca_topic_score_gemma":0.00002683965,"domain_scores_codex":[0.9976042,0.00004668139,0.0004787502,0.0005425105,0.001040104,0.0002877855],"domain_scores_gemma":[0.9959222,0.00001449461,0.0004564103,0.003231999,0.0002460801,0.0001288371],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00003392055,0.000102925,0.09036127,0.00006556825,0.00003005845,0.0009811057,0.0003744523,0.00001503877,0.891116,0.00005551254,0.01127539,0.005588758],"study_design_scores_gemma":[0.0003416708,0.00004284523,0.9129257,0.0003380122,0.00002675884,0.0003253581,0.00001559856,0.00008992078,0.07656278,0.002399676,0.006845803,0.00008594132],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.983511,0.0001068069,0.000004412287,0.001508554,0.003834535,0.0004460884,7.651054e-7,0.00002679009,0.01056109],"genre_scores_gemma":[0.9579857,0.00001112556,0.0001063997,0.00002020596,0.00004263416,0.000008179803,0.000006406846,0.0000132451,0.04180612],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8225644,"threshold_uncertainty_score":0.5839131,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03442711502136687,"score_gpt":0.3121125740784683,"score_spread":0.2776854590571015,"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."}}