This could be due to the presence of a detected variant in one of the alleles, a large deletion in the other allele of the same gene, and heterozygous deletion spanning the HBB gene from upstream of exon 1 to exon 3 downstream within the detection limits copy number variants (CNV) in ...
We describe a method, microarray analysis of differential splicing (MADS), for discovery of differential alternative splicing from exon-tiling microarray data. MADS incorporates a series of low-level analysis algorithms motivated by the "probe-rich" design of exon arrays, including background correction...