Unlocking Mendelian disease using exome sequencing

Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease.

Detalles Bibliográficos
Autores principales: Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308044/
https://www.ncbi.nlm.nih.gov/pubmed/21920049
http://dx.doi.org/10.1186/gb-2011-12-9-228

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308044/
https://www.ncbi.nlm.nih.gov/pubmed/21920049
http://dx.doi.org/10.1186/gb-2011-12-9-228

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