Whole Genome Sequencing
Whole genome sequencing (Illumina) was employed for the proband (Family 1) to determine the structural rearrangements and precise breakpoints of the small duplicated segment. WGS was operated with an Illumina HiSeq 2500 system (Illumina) with 150 bp pair-end reads. The target coverage was 30X, and two sequencing libraries with target insert sizes of approximately 300-400 bp were constructed and sequenced in four lanes.
SUB7295675
WGS_proband1