Public Release: 

Novogene will use Pacific Biosciences SMRT technology to build novo-disease SV genomes database

First database of long-read whole genome sequencing data

Novogene Corporation

San Diego, July 18, 2017 -- Novogene announced today it plans to use Pacific Biosciences SMRT® technology to build a comprehensive Chinese genome database, Novo-Disease SV Genomes. The database will consist of long-read sequencing data of 1000 Chinese genomes from a variety of disease types. As the first ever database of long-read human whole genome sequencing information, Novo-Disease SV Genomes will be a breakthrough step in the understanding of the human genome and in the field of precision medicine.

As a pioneer in the genomics field, Novogene has previously constructed the Novo-Zhonghua Genomes database, a population-specific genome database that consists of whole genome sequencing data on 2,500 normal Chinese genomes. The Novo-Zhonghua Genomes database reveals a large amount of SNPs and InDels that can be used for disease-specific variant annotation.

Databases such as Novo-Zhonghua Genomes, constructed with a large amount of genome sequencing data, lay the foundation for precision medicine. However, a genome database consisting of short-read sequencing data alone often misses the information on most structural variants (SVs), the changes in the chromosomal structure that can be linked to disease susceptibility.

Pacific Biosciences' Single Molecule, Real-Time (SMRT) sequencing technology has the advantage of uniform coverage across all genomes. Whole genome sequencing with PacBio Systems helps provide complete and accurate views of all types of genomic variation, revealing SNPs/SNVs, structural variants, mobile elements, haplotypes, epigenetics, and variants in low-complexity regions. Furthermore, the isoform sequencing (Iso-Seq®) method with the Sequel System generates full-length cDNA sequences, which can be used to profile the full complexity of the human transcriptome and discover novel genes, isoforms, and gene fusion events.

"By applying PacBio's SMRT technology to the construction of our Novo-Disease SV Genomes database, we will be able to apply long-read sequencing that can detect disease variants often missed by short-read sequencing," stated Ruiqiang Li, Ph.D., Founder and CEO of Novogene. "This more revealing and informative database should greatly improve our understanding of disease mechanisms and contribute to the development of novel diagnostic and therapeutic approaches."


About Novogene Corporation

Novogene is a leading provider of genomic services and solutions with cutting edge NGS and bioinformatics expertise and one of the largest sequencing capacities in the world. Novogene pursues scientific excellence, strong commitment to customer service and unsurpassed data quality to help our clients realize their research goals in the rapidly developing world of genomics. With 1,800 employees, multiple locations around the world, 49 NGS related patents, and over 250 publications in top tier journal such as Nature and Science, Novogene has rapidly become a world-leader in NGS services. For more information, visit


Joyce Peng, Ph.D.
Global Marketing Director and General Manager
San Diego, California

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