RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants

Single nucleotide variants (SNVs) in intronic regions have yet to be systematically investigated for their disease-causing potential. Using known pathogenic and neutral intronic SNVs (iSNVs) as training data, we develop the RegSNPs-intron algorithm based on a random forest classifier that integrates...

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Detalhes bibliográficos
Publicado no:Genome Biol
Main Authors: Lin, Hai, Hargreaves, Katherine A., Li, Rudong, Reiter, Jill L., Wang, Yue, Mort, Matthew, Cooper, David N., Zhou, Yaoqi, Zhang, Chi, Eadon, Michael T., Dolan, M. Eileen, Ipe, Joseph, Skaar, Todd C., Liu, Yunlong
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6883696/
https://ncbi.nlm.nih.gov/pubmed/31779641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-019-1847-4
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