Single nucleotide variations: Biological impact and theoretical interpretation

Genome-wide association studies (GWAS) and whole-exome sequencing (WES) generate massive amounts of genomic variant information, and a major challenge is to identify which variations drive disease or contribute to phenotypic traits. Because the majority of known disease-causing mutations are exonic...

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Detalles Bibliográficos
Autores principales: Katsonis, Panagiotis, Koire, Amanda, Wilson, Stephen Joseph, Hsu, Teng-Kuei, Lua, Rhonald C, Wilkins, Angela Dawn, Lichtarge, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253807/
https://www.ncbi.nlm.nih.gov/pubmed/25234433
http://dx.doi.org/10.1002/pro.2552

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253807/
https://www.ncbi.nlm.nih.gov/pubmed/25234433
http://dx.doi.org/10.1002/pro.2552

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