GOTHENBURG, Sweden, June 17, 2019 – Global genomics leader BGI Group unveiled a new standard and cost-effective package for high-quality de novo genome assembly using MGI’s DNBSEQ™ and stLFR technologies. As a subsidiary of BGI Group, MGI Tech is committed to making healthcare more effective and affordable worldwide. The new technology marks a breakthrough in providing comprehensive and accurate access to genetic information, ushering in a “Full HD” era of genome sequencing.
The 676 Standard “HD” Genome enhances personalized medicine by assembling each individual’s genome independently, rather than relying on a reference genome. Dr. Rade Drmanac, MGI Chief Scientific Officer, explained that haplotype-phased de novo genome sequences are more complete and accurate, offering vital insights for precision medicine, complex disease studies, and national genome projects.
BGI’s single tube long fragment read (stLFR) technology enables affordable sequencing, haplotyping, and de novo assembly using co-barcoded second-generation sequencing reads from long DNA molecules. Additionally, BGI has partnered with bioinformatics company Sentieon to optimize genome assembly and variant calling for stLFR reads, enhancing cost-effective, high-precision sequencing.
The 676 Standard is designed to detect all structural variants and assemble regions often poorly represented in reference genomes. Its human genome assembly exceeds 6Gb in size, with contig N50 >1Mb and scaffold N50 >10Mb. By assembling both parental chromosome sets independently, the standard improves genome interpretation, disease prediction, and understanding of complex genetic traits.
Dr. Brock Peters, MGI Senior Director of Research, stated: “The goal of an individual de novo genome is to provide near-perfect information, reducing errors compared to mapping sequences to a generic reference genome.”
BGI plans to incorporate the 676 Standard in its Diverse Genomes Project, aiming to build improved reference genomes from diverse populations worldwide. The first 1,000 samples will be sequenced, and all data will be freely available for research purposes.
About Sentieon
Sentieon develops high-performance bioinformatics tools for genomics data analysis, ensuring fast, accurate, and consistent results for precision medicine. More information visit: Sentieon.
