Cargando…
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
As the number of non-synonymous single nucleotide polymorphisms (nsSNPs) identified through whole-exome/whole-genome sequencing programs increases, researchers and clinicians are becoming increasingly reliant upon computational prediction algorithms designed to prioritize potential functional varian...
Autores principales: | Shihab, Hashem A, Gough, Julian, Mort, Matthew, Cooper, David N, Day, Ian NM, Gaunt, Tom R |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083756/ https://www.ncbi.nlm.nih.gov/pubmed/24980617 http://dx.doi.org/10.1186/1479-7364-8-11 |
Ejemplares similares
-
An integrative approach to predicting the functional effects of non-coding and coding sequence variation
por: Shihab, Hashem A., et al.
Publicado: (2015) -
Predicting the functional consequences of cancer-associated amino acid substitutions
por: Shihab, Hashem A., et al.
Publicado: (2013) -
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution
por: Zhang, Xinjun, et al.
Publicado: (2017) -
Identification of functional single nucleotide polymorphisms in the branchpoint site
por: Chiang, Hung-Lun, et al.
Publicado: (2017) -
Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions
por: Erzurumluoglu, A. Mesut, et al.
Publicado: (2016)