Technology Presentation

Twist Bioscience (Silver Sponsor!)

Agilent Technologies Japan, Ltd.

Head of Commercial, APAC Dovetail Genomics
Speaker: Leaw Chui Li


The hierarchical organization of chromatin is known to associate with diverse cellular functions; however, the precise mechanisms and the 3D structure remain to be determined. With recent advances in high-throughput next generation sequencing (NGS) techniques, genome-wide profiling of chromatin structures is made possible.

Dovetail Genomics is the leading company in proximity ligation technology.
Using the technology, we help researchers and scientists to uncover the 3D structure of chromatin interactions and identifying large structural variants in human genome which may have implication in human diseases etiology.

This talk will provide a technical view of the proximity ligation technology, its values in human medical research particularly in detection of large structural variants and it’s applications in 3D genome interactions.

Emerging Structural Variation Analysis
Tateo Nagai1, Cheng Chaoyang2, Shinsaku Otaki2, Julian Walker1

1. Hitachi High Technologies America, Inc., 2. Hitachi High Technologies Corp.

It has been documented that up to 13% of the human genome is subject to large Structural Variation (SV) (1). Although there are numerous techniques used to identify SV, very few are feasible in practical applied use. This means the picture of human genomic variation is far from complete, as significant sequenced regions containing SVs remain unread. Hitachi High Technologies is developing the Human Chromosome Explorer(SM) (HCE), a cloud and web-based analytical and visualization system used to discover SVs throughout the human genome from genome mapping technologies. HCE enables the complete integrated analysis of combined exome and intergenic regions, providing a more complete view of full genome SV than currently available.
HCE uses a haplotype aware assembler and SV analysis pipeline that exploits distributed computing across multiple compute nodes bringing the processing time down to a few hours for whole human genome assembly. The ability to dynamically control computes nodes also controls cost. This demonstrates HCE’s feasibility as an emerging pipeline for rapid, cost effective, calling of structural variation in the human genome.
1. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, et al. Origins and functional impact of copy number variation in the human genome. Nature. 2010;464:704–12.