Article
affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling.
BMC bioinformatics - 20 May 2015
Hernandez-Ferrer Carles, Quintela Garcia Ines, Danielski Katharina, Carracedo Ángel, Pérez-Jurado Luis A, González Juan R
Abstract excerpt
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 in mosaicism events, are being studies. We present the R package affy2sv to pre-process Affymetrix CytoScan HD/750k...
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