SNPDelScore: combining multiple methods to score deleterious effects of noncoding mutations in the human genome

SUMMARY: Addressing deleterious effects of noncoding mutations is an essential step towards the identification of disease-causal mutations of gene regulatory elements. Several methods for quantifying the deleteriousness of noncoding mutations using artificial intelligence, deep learning and other ap...

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Gepubliceerd in:Bioinformatics
Hoofdauteurs: Alvarez, Roberto Vera, Li, Shan, Landsman, David, Ovcharenko, Ivan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2018
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5860207/
https://ncbi.nlm.nih.gov/pubmed/28968739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btx583
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