Long range mate-pair genome sequence data for the CEPH 1463 family

We sequenced a family trio using long range mate-pair data that combined with existing short insert genome datasets will allow improved the sensitivity to detect insertions, deletions and translocations. The mate pair libraries were prepared using the Nextera mate pair gel-free sample preparation protocol starting with 1 µg of genomic DNA and were sequenced on a HiSeq 2000 platform, for 2 x 100 bp. PF yields are NA12877, 87.83Gb, NA12878, 129.91Gb, NA12882, 108.36Gb. These data have a physical insert size of ~2000bp and compared with a normal paired end data that spans ~300bp, for the same total sequence depth this mate pair data will contain almost 7x the number of read pairs that cross any specific break point. The addition of more read pairs crossing a break point will improve sensitivity and allow improved detection of SVs in highly repetitive regions.