Highly contiguous de novo human genome assembly and long-range haplotype phasing using SMRT Sequencing

Author(s): Ashby, Meredith and Chin, Jason and Hon, Lawrence and Harting, John and Peluso, Paul and Rank, David and Kujawa, Steve and Hickey, Luke and Ekholm, Jenny and Korlach, Jonas

The long reads, random error, and unbiased sampling of SMRT Sequencing enables high quality, de novo assembly of the human genome. PacBio long reads are capable of resolving genomic variations at all size scales, including SNPs, insertions, deletions, inversions, translocations, and repeat expansions, all of which are important in understanding the genetic basis for human disease and difficult to access via other technologies. In demonstration of this, we report a new high-quality, diploid aware de novo assembly of Craig Venter’s well-studied genome.

Organization: PacBio
Year: 2015

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