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BGI Group Introduces New Technology Standard and Cost-Effective Solution for High Quality Haplotype-phased De Novo Human Genome Assembly

2019-06-17

GOTHENBURG, Sweden, June 17, 2019 – Global genomics leader BGI Group introduced a new standard and cost-effective solution for high quality de novo genome assembly using MGI’s DNBSEQTM and stLFR technologies. MGI, as a subsidiary of BGI Group, is committed to enabling effective and affordable healthcare solutions for all. The technology announced today opens a new era of genome-wide sequencing in “Full HD” and marks a breakthrough in more comprehensive and accurate access to genetic information.


The new 676 standard “HD” Genome helps deliver on the promise of personalized medicine by providing more accurate genetic predictions, since it assembles each person’s genome individually and is not dependent on a reference genome, said Dr. Rade Drmanac, MGI Chief Scientific Officer, who presented the specifications during a talk at the European Society of Human Genetics (ESHG) conference in Gothenburg, Sweden. Such haplotype-phased de novo assembled individual genome sequences are more complete, accurate and informative for precision medicine, complex disease studies and advanced national genome projects.


Rade Drmanac, MGI Chief Scientific Officer, presenting at the European Society of Human Genetics 2019


An innovation leader in next generation sequencing (NGS), BGI Group is using a new sequencing solution developed by MGI called single tube long fragment read (stLFR) technology, which achieves affordable sequencing, haplotyping, and de novo assembly using unique co-barcoded second-generation sequencing reads from long DNA molecules.


Also at ESHG in Gothenburg, BGI Group announced it is collaborating with the bioinformatics software company Sentieon, a leader in genome assembly and variant calling solutions, on the advanced and cost-effective haplotype-phased de novo WGS assembly of stLFR reads.


The cost of the 676 standard genome is expected to be $1,000, on the upcoming MGISEQ-T7 sequencing platform. BGI defined its 676 Quality Genome standard as: Contig N50 greater than 106 bases (>1Mb), Scaffold N50 greater than 107 bases (>10Mb), and for human genome, total assembled size larger than 6Gb.


The 676 standard can detect all types of structural variants and is ideal for assembling regions of the genome not well represented by the reference genome. The human reference genome, the standard against which people sequenced later are compared, was assembled predominantly from a single individual and mapping to it often results in mistakes and missing data.


BGI Group is addressing those shortcomings with innovative technology that captures most of an individual’s unique genetic variation. As a global leader in innovative sequencing platforms, MGI is committed to developing and producing advanced genetic sequencing instruments, consumables and reagents and fostering the industry’s progress.


Currently, due to the limitations of sequencing technologies, the data generated from most sequenced genomes are haploid. But humans are diploid, that is we inherit a set of chromosomes from each parent, and the difference in variants between these chromosomes can have important effects on an individual’s phenotype. Assembling both sets of chromosomes independently, as the 676 Standard does, can improve genome interpretation and ultimately help with disease prediction in an individual or genetic understanding of complex diseases.


More accurate and cost-effective technology for assembling individual human genomes offers important benefits for people to have their genomes sequenced early in life -- a personal reference genome to compare all other sequencing data to later acts as a baseline to measure changes that could impact health over a lifetime.


“The goal of an individual de novo genome is to have as close to perfect information as possible so that interpretation of that genome is as well informed as possible,” said Dr. Brock Peters, MGI’s Senior Director of Research. “For sequence-based tests performed later in life, mapping reads from an individual to their own reference would be expected to reduce many of the errors associated with mapping to a reference that isn’t from the same person.”


In addition, BGI Group plans to apply the new technology to its Diverse Genomes Project, an effort to build a set of better reference genomes of humans by including data from more diverse populations around the world. BGI Group welcomes collaborators to participate in the project and plans to sequence 1,000 samples in the next few years. The data generated would be made freely and publicly available.


About BGI Group

BGI was founded in 1999 with the vision of using genomics to benefit mankind and has since become one of the largest genomics organizations in the world. With a focus on research and applications in the healthcare, pharmaceutical, conservation and environmental fields, BGI has a proven track record of innovative, high profile research, which has generated more than 2,000 publications. BGI’s goal is to make state-of-the-art genomics highly accessible to the global research community and clinical markets by integrating the industry’s broadest array of leading technologies, including BGI's own sequencing platform, economies of scale, and expert bioinformatics resources. BGI also offers a wide portfolio of transformative genetic testing products across major diseases, enabling medical providers and patients worldwide to realize the promise of genomics-based diagnostics and personalized healthcare. More information: http://en.genomics.cn/


About MGI

MGI Tech Co., Ltd. (MGI), a subsidiary of BGI Group, is committed to enabling effective and affordable healthcare solutions for all. Based on its proprietary technology, MGI produces sequencing devices, equipment, consumables and reagents to support life science research, medicine and healthcare. MGI’s multi-omics platforms include genetic sequencing, mass spectrometry and medical imaging. Providing real-time, comprehensive, life-long solutions, its mission is to develop and promote advanced life science tools for future healthcare. More information: https://en.mgitech.cn


About Sentieon

Incorporated in July 2014, Sentieon develops and supplies a suite of bioinformatics secondary analysis tools that process genomics data with high computing efficiency, fast turnaround time, exceptional accuracy, and 100% consistency. Sentieon’s team develops highly-optimized algorithms for bioinformatics applications, using the team’s expertise in algorithm, software, and system optimization. Drawing on deep expertise in modeling, optimization, machine learning, and high-performance computing, we strive to enable precision data for precision medicine. Further information can be found at http://www.sentieon.com.


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