FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

BACKGROUND: Characterising genetic diversity through the analysis of massively parallel sequencing (MPS) data offers enormous potential to significantly improve our understanding of the genetic basis for observed phenotypes, including predisposition to and progression of complex human disease. Great...

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Detalles Bibliográficos
Autores principales: Pope, Bernard J, Nguyen-Dumont, Tú, Odefrey, Fabrice, Hammet, Fleur, Bell, Russell, Tao, Kayoko, Tavtigian, Sean V, Goldgar, David E, Lonie, Andrew, Southey, Melissa C, Park, Daniel J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Methodology Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599469/
https://www.ncbi.nlm.nih.gov/pubmed/23441864
http://dx.doi.org/10.1186/1471-2105-14-65

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599469/
https://www.ncbi.nlm.nih.gov/pubmed/23441864
http://dx.doi.org/10.1186/1471-2105-14-65

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