Matches in SemOpenAlex for { <https://semopenalex.org/work/W2909194804> ?p ?o ?g. }
- W2909194804 endingPage "548.e24" @default.
- W2909194804 startingPage "535" @default.
- W2909194804 abstract "The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the mechanisms by which the cellular machinery achieves such specificity are incompletely understood. Here, we describe a deep neural network that accurately predicts splice junctions from an arbitrary pre-mRNA transcript sequence, enabling precise prediction of noncoding genetic variants that cause cryptic splicing. Synonymous and intronic mutations with predicted splice-altering consequence validate at a high rate on RNA-seq and are strongly deleterious in the human population. De novo mutations with predicted splice-altering consequence are significantly enriched in patients with autism and intellectual disability compared to healthy controls and validate against RNA-seq in 21 out of 28 of these patients. We estimate that 9%–11% of pathogenic mutations in patients with rare genetic disorders are caused by this previously underappreciated class of disease variation." @default.
- W2909194804 created "2019-01-25" @default.
- W2909194804 creator A5011875361 @default.
- W2909194804 creator A5012226169 @default.
- W2909194804 creator A5012414267 @default.
- W2909194804 creator A5016489705 @default.
- W2909194804 creator A5034432364 @default.
- W2909194804 creator A5043156671 @default.
- W2909194804 creator A5049906252 @default.
- W2909194804 creator A5053348744 @default.
- W2909194804 creator A5058339440 @default.
- W2909194804 creator A5062280572 @default.
- W2909194804 creator A5064842058 @default.
- W2909194804 creator A5072958528 @default.
- W2909194804 creator A5077390014 @default.
- W2909194804 creator A5078632163 @default.
- W2909194804 creator A5088788338 @default.
- W2909194804 creator A5089086060 @default.
- W2909194804 creator A5091824858 @default.
- W2909194804 date "2019-01-01" @default.
- W2909194804 modified "2023-10-18" @default.
- W2909194804 title "Predicting Splicing from Primary Sequence with Deep Learning" @default.
- W2909194804 cites W1533942137 @default.
- W2909194804 cites W1536775300 @default.
- W2909194804 cites W1846422913 @default.
- W2909194804 cites W1987754412 @default.
- W2909194804 cites W2001460737 @default.
- W2909194804 cites W2008627757 @default.
- W2909194804 cites W2018838463 @default.
- W2909194804 cites W2023648355 @default.
- W2909194804 cites W2024663595 @default.
- W2909194804 cites W2027699344 @default.
- W2909194804 cites W2028845751 @default.
- W2909194804 cites W2034691490 @default.
- W2909194804 cites W2038894647 @default.
- W2909194804 cites W2038921819 @default.
- W2909194804 cites W2053998703 @default.
- W2909194804 cites W2056198580 @default.
- W2909194804 cites W2073889874 @default.
- W2909194804 cites W2075661710 @default.
- W2909194804 cites W2078059415 @default.
- W2909194804 cites W2081489843 @default.
- W2909194804 cites W2087216143 @default.
- W2909194804 cites W2088338354 @default.
- W2909194804 cites W2095998476 @default.
- W2909194804 cites W2096465161 @default.
- W2909194804 cites W2105360874 @default.
- W2909194804 cites W2108994842 @default.
- W2909194804 cites W2110400205 @default.
- W2909194804 cites W2110776599 @default.
- W2909194804 cites W2112813983 @default.
- W2909194804 cites W2113525941 @default.
- W2909194804 cites W2131104106 @default.
- W2909194804 cites W2136941319 @default.
- W2909194804 cites W2138014988 @default.
- W2909194804 cites W2138956466 @default.
- W2909194804 cites W2139480055 @default.
- W2909194804 cites W2153773863 @default.
- W2909194804 cites W2155453721 @default.
- W2909194804 cites W2155804510 @default.
- W2909194804 cites W2194775991 @default.
- W2909194804 cites W2212604588 @default.
- W2909194804 cites W2256016639 @default.
- W2909194804 cites W2417483443 @default.
- W2909194804 cites W2581649032 @default.
- W2909194804 cites W2605631262 @default.
- W2909194804 cites W2739896399 @default.
- W2909194804 cites W2765483614 @default.
- W2909194804 cites W2774883395 @default.
- W2909194804 cites W2949444664 @default.
- W2909194804 cites W4247292500 @default.
- W2909194804 doi "https://doi.org/10.1016/j.cell.2018.12.015" @default.
- W2909194804 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30661751" @default.
- W2909194804 hasPublicationYear "2019" @default.
- W2909194804 type Work @default.
- W2909194804 sameAs 2909194804 @default.
- W2909194804 citedByCount "1104" @default.
- W2909194804 countsByYear W29091948042018 @default.
- W2909194804 countsByYear W29091948042019 @default.
- W2909194804 countsByYear W29091948042020 @default.
- W2909194804 countsByYear W29091948042021 @default.
- W2909194804 countsByYear W29091948042022 @default.
- W2909194804 countsByYear W29091948042023 @default.
- W2909194804 crossrefType "journal-article" @default.
- W2909194804 hasAuthorship W2909194804A5011875361 @default.
- W2909194804 hasAuthorship W2909194804A5012226169 @default.
- W2909194804 hasAuthorship W2909194804A5012414267 @default.
- W2909194804 hasAuthorship W2909194804A5016489705 @default.
- W2909194804 hasAuthorship W2909194804A5034432364 @default.
- W2909194804 hasAuthorship W2909194804A5043156671 @default.
- W2909194804 hasAuthorship W2909194804A5049906252 @default.
- W2909194804 hasAuthorship W2909194804A5053348744 @default.
- W2909194804 hasAuthorship W2909194804A5058339440 @default.
- W2909194804 hasAuthorship W2909194804A5062280572 @default.
- W2909194804 hasAuthorship W2909194804A5064842058 @default.
- W2909194804 hasAuthorship W2909194804A5072958528 @default.
- W2909194804 hasAuthorship W2909194804A5077390014 @default.
- W2909194804 hasAuthorship W2909194804A5078632163 @default.