Genome-wide detection of structural variants
The libraries were prepared using Illumina’s Nextera mate-pair kit (gel-free protocol) where 1 µg of genomic DNA was fragmented using an enzymatic method generating fragments in the range of 2-15 kb. The final library was subjected to 2x100 bases paired-end sequencing on an Illumina HiSeq2500 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.
Applied Human Molecular Genetics, Kennedy Center,
Mate-Pair sequencing