Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

Standard short-read approaches struggle to identify large, balanced structural events, cannot access repetitive regions of the genome and fail to resolve the human genome into its two haplotypes. Starting from only ~1ng of DNA, we produce barcoded short read libraries that retain long range information. We demonstrate the ability of both lrWGS and Linked-Read Whole Exome Sequencing (lrWES) to identify complex structural variations, including balanced events, single exon deletions, and single exon duplications. The data presented here show that Linked-Reads provide a scalable approach for comprehensive genome analysis that is not possible using short reads alone.