Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes

BACKGROUND: Significant human diseases/phenotypes exist which require both an environmental trigger event and a genetic predisposition before the disease/phenotype emerges, e.g. Carbamazepine with the rare SNP allele of rs3909184 causing Stevens Johnson syndrome, and aminoglycosides with rs267606617...

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Detalles Bibliográficos
Autores principales: Stouffer, Kaitlin, Nahorski, Michael, Moreno, Pablo, Sarveswaran, Nivedita, Menon, David, Lee, Michael, Geoffrey Woods, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716007/
https://www.ncbi.nlm.nih.gov/pubmed/29202707
http://dx.doi.org/10.1186/s12864-017-4325-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716007/
https://www.ncbi.nlm.nih.gov/pubmed/29202707
http://dx.doi.org/10.1186/s12864-017-4325-y

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