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An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

BACKGROUND: Small insertions and deletions (indels) have a significant influence in human disease and, in terms of frequency, they are second only to single nucleotide variants as pathogenic mutations. As the majority of mutations associated with complex traits are located outside the exome, it is c...

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Detalles Bibliográficos
Autores principales: Ferlaino, Michael, Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David N., Gaunt, Tom R., Campbell, Colin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5955213/
https://www.ncbi.nlm.nih.gov/pubmed/28985712
http://dx.doi.org/10.1186/s12859-017-1862-y

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