affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

BACKGROUND: The well-known Genome-Wide Association Studies (GWAS) had led to many scientific discoveries using SNP data. Even so, they were not able to explain the full heritability of complex diseases. Now, other structural variants like copy number variants or DNA inversions, either germ-line or i...

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Detalles Bibliográficos
Autores principales: Hernandez-Ferrer, Carles, Quintela Garcia, Ines, Danielski, Katharina, Carracedo, Ángel, Pérez-Jurado, Luis A., González, Juan R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438530/
https://www.ncbi.nlm.nih.gov/pubmed/25991004
http://dx.doi.org/10.1186/s12859-015-0608-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438530/
https://www.ncbi.nlm.nih.gov/pubmed/25991004
http://dx.doi.org/10.1186/s12859-015-0608-y

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