Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences

Information theory-based methods have been shown to be sensitive and specific for predicting and quantifying the effects of non-coding mutations in Mendelian diseases. We present the Shannon pipeline software for genome-scale mutation analysis and provide evidence that the software predicts variants...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genomics Proteomics Bioinformatics
Main Authors: Shirley, Ben C., Mucaki, Eliseos J., Whitehead, Tyson, Costea, Paul I., Akan, Pelin, Rogan, Peter K.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357664/
https://ncbi.nlm.nih.gov/pubmed/23499923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gpb.2013.01.008
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados