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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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Detalles Bibliográficos
Publicado en: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: BioMed Central 2019
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Acceso en liña: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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