{"id":"W3144896771","doi":"10.1038/s41467-021-22262-5","title":"Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University; Montreal Heart Institute; Montreal Neurological Institute and Hospital","funders":"Rosetrees Trust; Agence Nationale de la Recherche; University College London; Parkinson's UK; UK Dementia Research Institute; National Institute for Health and Care Research; Alzheimer's Society; Medical Research Council; Barts Charity; Wellcome Trust","keywords":"Lineage (genetic); Apolipoprotein E; Disease; Biology; Genetics; Computational biology; Genomics; Gene; Genome; Medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001403264,0.0001522342,0.0001518162,0.000396541,0.0001231323,0.0001910416,0.00009679865,0.0002146821,0.001934978],"category_scores_gemma":[0.0003749743,0.00008111927,0.0001294457,0.0003726571,0.0001633064,0.0000847235,0.0001654835,0.0001722241,0.0001935709],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007216083,"about_ca_system_score_gemma":0.00009330185,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001020709,"about_ca_topic_score_gemma":0.002826962,"domain_scores_codex":[0.9999065,0.0000122226,0.000009171539,0.00004681731,0.00001325443,0.00001201304],"domain_scores_gemma":[0.9996543,0.0001018184,0.0001527955,0.00003510683,0.00002140408,0.00003461658],"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":[0.000740793,0.00002409604,0.3085846,0.00009090397,0.0001359375,0.000786341,0.0002688525,0.0002423907,0.6762262,0.000376688,0.0001477381,0.01237544],"study_design_scores_gemma":[0.00001044738,0.00007632659,0.9706195,0.00001337382,0.00006389136,0.002561922,0.0001033978,0.0007328579,0.02402138,0.0004175416,0.001370906,0.000008490872],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984621,0.0002541512,0.0005846751,0.00001888944,0.000001567026,0.000002093671,0.0004140771,0.00001093368,0.0002515829],"genre_scores_gemma":[0.9980171,0.0001229626,0.0008104513,0.00002669771,0.000002877993,0.00000349988,0.0005566297,0.00001093121,0.0004489312],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001934978,"threshold_uncertainty_score":0.006473124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02919174820347659,"score_gpt":0.3044087848041835,"score_spread":0.275217036600707,"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."}}