{"id":"W2883945062","doi":"10.1038/s41588-018-0160-6","title":"Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk","year":2018,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":605,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Institute of Allergy and Infectious Diseases; National Human Genome Research Institute; National Institute of General Medical Sciences; Canadian Institute for Advanced Research; National Heart, Lung, and Blood Institute; Princeton University","keywords":"Biology; In silico; Genetics; Computational biology; Human genome; Gene; Mutation; DNA microarray; Genome; Gene expression","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007847174803079521,"score_gpt":0.2559164227726446,"score_spread":0.2480692479695651,"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."}}