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

ABSTRACT: 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.

INSTRUMENT(S): Illumina HiSeq X Ten, Illumina HiSeq 4000

ORGANISM(S): Homo Sapiens

SUBMITTER: 10X Genomics 

PROVIDER: PRJEB28297 | EVA | 2018-08-21

REPOSITORIES: EVA