{"id":"W2088338354","doi":"10.1126/science.1254806","title":"The human splicing code reveals new insights into the genetic determinants of disease","year":2014,"lang":"en","type":"article","venue":"Science","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1306,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; Canadian Institute for Advanced Research","funders":"National Institute of General Medical Sciences; Natural Sciences and Engineering Research Council of Canada; University of Toronto; Autism Speaks; National Cancer Institute; McLaughlin Centre, University of Toronto; Ontario Genomics; National Institutes of Health; Hospital for Sick Children; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics Institute","keywords":"RNA splicing; Genetics; Missense mutation; Biology; Gene; Genome; Phenotype; Intron; Mutation; Computational biology; Disease; RNA; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01261340573962562,"score_gpt":0.2726524747851433,"score_spread":0.2600390690455177,"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."}}