Analyzing SNPs, CNVs, inversions and mosaicisms association studies using Affymetrix CytoScan


Carles Hernandez-Ferrer, Ines Quintela Garcia, Katharina Danielski, Angel Carracedo Alvarez, Luis A. Perez-Jurado, Juan R. Gonzale

Molecular Targets for Predictive and Personalized Medicine of Cancer


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 in mosaicism events, are being studies. We present the R package affy2sv affy2sv to pre-process Affymetrix CytoScan HD/750k array (also for Genome-Wide SNP 5.0/6.0 and Axiom) in structural variant studies.

Both examples presented in the poster show up how affy2sv can be used as part of more complex pipelines aimed to analyze Affymetrix SNP arrays data in genetic association studies.


Carles Hernandez-Ferrer

Carles Hernandez-Ferrer

Bioinformatics, data analysis and software development

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