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

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

The new BGI standard 676 Quality Genome helps deliver on the promise of personalized medicine by providing more accurate and comprehensive genetic predictions, since it assembles each person’s genome individually and is not dependent on a reference genome, said 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.

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 Quality 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 10^6 bases (>1Mb), Scaffold N50 greater than 10^7 bases (>10Mb), and for human genome, total assembled size larger than 6Gb.

The 676 Quality Genome 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. 

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, serving as a baseline to measure changes that could impact health over a lifetime.

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.
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