Cargando…
Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases
Single nucleotide polymorphisms (SNPs) are, together with copy number variation, the primary source of variation in the human genome. SNPs are associated with altered response to drug treatment, susceptibility to disease and other phenotypic variation. Furthermore, during genetic screens for disease...
Autores principales: | Reumers, Joke, Conde, Lucia, Medina, Ignacio, Maurer-Stroh, Sebastian, Van Durme, Joost, Dopazo, Joaquin, Rousseau, Frederic, Schymkowitz, Joost |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2238831/ https://www.ncbi.nlm.nih.gov/pubmed/18086700 http://dx.doi.org/10.1093/nar/gkm979 |
Ejemplares similares
-
PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes
por: Conde, Lucía, et al.
Publicado: (2006) -
SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants
por: De Baets, Greet, et al.
Publicado: (2012) -
SNPeffect: a database mapping molecular phenotypic effects of human non-synonymous coding SNPs
por: Reumers, Joke, et al.
Publicado: (2005) -
SNPeffect 5.0: large-scale structural phenotyping of protein coding variants extracted from next-generation sequencing data using AlphaFold models
por: Janssen, Kobe, et al.
Publicado: (2023) -
An Evolutionary Trade-Off between Protein Turnover Rate and Protein Aggregation Favors a Higher Aggregation Propensity in Fast Degrading Proteins
por: De Baets, Greet, et al.
Publicado: (2011)