Genome-wide detection of structural variants
Mate-pair libraries were prepared using Illumina’s mate-pair library kit v2. 10 µg of genomic DNA was fragmented and size-selected in the range of 1.5-2.5 kb. The final mate-pair library with size-selected fragments of 350-650 bp was subjected to 2x50 bases paired-end sequencing on an Illumina HiSeq2000 sequencing platform.  Reads passing Illumina quality control were mapped to the human reference genome (GRCh37/hg19) using Burrows-Wheeler Aligner (BWA). Reads not aligning uniquely were not included, while clustered pair-reads with alignment score MAPQ>=37 were considered for further analysis. The structural variants (SVs) were identified by the ‘discordant’ mate-pair reads with an unexpected alignment distance and/or orientation. Only the 'discordant' sequence reads are submitted.