{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002198186,0.0002548929,0.0002474293,0.0006542463,0.0001337507,0.0002375938,0.0002277462,0.00026866,0.001361504],"category_scores_gemma":[0.00558683,0.0001328637,0.0003227022,0.0003253902,0.0001717783,0.0002384505,0.0002570327,0.0002679844,0.0001942437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001548289,"about_ca_system_score_gemma":0.0001304548,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002130347,"about_ca_topic_score_gemma":0.001586372,"domain_scores_codex":[0.9993343,0.0003075704,0.00004557612,0.0001679146,0.00007679439,0.00006772546],"domain_scores_gemma":[0.9959865,0.002549784,0.0006994516,0.0004155824,0.0002120091,0.0001366126],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005577471,0.00004323049,0.9845161,0.00001474302,0.0001677918,0.0004907942,0.0001679699,0.001821907,0.005205234,0.0001099145,0.0001067065,0.006797904],"study_design_scores_gemma":[0.000007568941,0.0002258502,0.992817,0.000004767971,0.0000547091,0.001436799,0.00006197308,0.003942537,0.0009370404,0.0001988523,0.0003055549,0.000007144893],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985809,0.0001207686,0.0008527111,0.000007459311,0.000001567341,0.000004382841,0.0002434401,0.000007098587,0.0001816092],"genre_scores_gemma":[0.9993067,0.00003575834,0.0002063516,0.000002940864,0.000001254398,0.000003372203,0.0003447772,0.000004069795,0.00009485365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002198186,"threshold_uncertainty_score":0.01162529,"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."}}