Methodology article
A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data
1 Center for Research in Environmental Epidemiology (CREAL), Doctor Aiguader 88, Barcelona 08003, Spain
2 Institut Municipal d'Investigació Mèdica (IMIM), Doctor Aiguader 88, Barcelona 08003, Spain
3 CIBER Epidemiología y Salud Pública (CIBERESP), Spain
4 Dept. de Ciències Experimentals i de la Salut, UPF, Barcelona 08003, Spain
5 CIBER de Enfermedades Raras, CIBERER, Spain
6 Department of Human Genetics, University of Chicago, IL 60637, USA
7 Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20852-4907, USA
8 Core Genotyping Facility, SAIC-Frederick, Frederick, MD 21702, USA
9 Quantitative Genomic Medicine Laboratories, Ltd (qGenomics), Doctor Aiguader 88, Barcelona 08003, Spain
BMC Bioinformatics 2011, 12:166 doi:10.1186/1471-2105-12-166
Published: 17 May 2011Additional files
Additional file 1:
File including figures for examples of simulated data sets, some simulation results and new mosaic abnormalities detected using MAD in SNP arrary data previously analyzed with ad-hoc tools (Rodriguez-Santiago et al., 2010).
Format: PDF Size: 14.5MB Download file
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Additional file 2:
Recommended parameters for a preliminary scan using different Illumina platforms.
Format: PDF Size: 347KB Download file
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Additional file 3:
Comparison between MAD findings and chromosomal abnormalities previously described in HapMap individuals also analysed in Redon et al., Nature, 2006.
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Additional file 4:
Additional analysis using PennCNV to discard mosaic detected with MAD with consitutional duplications.
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Additional file 5:
User's guide of an R package that implements MAD algorithm including some real data examples.
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Additional file 6:
List and details of used MLPA probes for validating new mosaic rearrangements.
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