BGI Tech develops whole exome sequencing analysis of FFPE DNA samples to boost biomedicine

Achieving optimization of FFPE DNA library construction with DNA down to 200 ng

2012-09-18

(Press-News.org) September 18, 2012, Shenzhen, China – BGI Tech Solutions Co., Ltd. (the "BGI Tech"), a subsidiary company of BGI, announced today that they have achieved whole exome sequencing analysis of total degraded DNA as low as 200 ng from formalin fixed paraffin embedded (FFPE) samples. This advancement enables researchers to efficiently uncover the genetic information from FFPE disease samples such as cancers and infectious diseases, with the advantages of high reliability, accuracy and fast turnaround time. FFPE samples are the most common biological materials for disease diagnoses and clinical studies. Especially in cancer research, millions of FFPE archival cancer tissue samples provide an enormous and invaluable repository of information, which hold a wealth of data for the discovery of biomarkers, drug development as well as diseases diagnosis and treatment. However, during the FFPE sample preparation and storage process, the effect of formaldehyde on nucleic acids is detrimental, which can induce modification of nucleotide molecules, such as DNA damage, DNA-protein cross-links (DPC), among others. This may lay problems for researchers to get enough high-quality DNA from these FFPE samples to comprehensively explore the genetic characteristics of diseases, especially for some rare tumors. FFPE samples are a unique sample type with a lot of challenges, and researchers from BGI Tech have optimized the DNA extraction, library construction and sequencing pipelines of FFPE DNA samples. At present, DNA as low as 200 ng from FFPE samples can be used for whole exome sequencing. To insure the accuracy and quality of sequencing, researchers evaluated the FFPE DNA sequencing results and demonstrated that FFPE exome sequencing could maintain the equivalent accuracy and reliability with the normal DNA sample sequencing. It is reported that ~85% of genetic diseases are related with exome variations. Whole exome sequencing is a robust innovative technique that selectively sequences the coding regions of a genome and can be used to identify novel genes associated with rare and common diseases such as cancer, diabetes, and obesity. However, currently traditional exome sequencing has higher requirement for the quality and the amount of input of DNA samples. Zhao Lin, Director of Products R&D Department of BGI Tech, said, "Our whole exome sequencing technology with FFPE DNA sample is an important step toward better and quickly decoding the genetic information underlying FFPE diseases samples. I believe this advancement will strengthen the confidence of researchers in pharmaceutical and disease areas, especially when samples are limited. In order to accelerate biomedical research, we expect to conduct more FFPE sequencing projects with collaborators worldwide."

### About BGI Tech Solutions Co., LTD BGI Tech aims to provide advanced multi-omics and bioinformatics service solutions for its global customers to achieve their research goals in biomedical, agricultural, and environmental areas. BGI Tech was established as a subsidiary company of BGI, one of the largest genomics organizations in the world with multiple great scientific achievements and over 250 publications in top-tier journals such as Nature and Science. Equipped with the industry's broadestcoupled with an experienced team of scientists and bioinformaticians,, BGI Tech delivers rapid, cost-effective, and high-quality results that enable researchers to achieve scientific breakthroughs. For more information, please visit www.bgitechsolutions.com

Contact information: Zhao Lin
Director of New Products Department of BGI Tech
linzhao@genomics.cn
www.bigtechsolutions.com

Bicheng Yang,
Public Communication Officer
+86-755-82639701
yangbicheng@genomics.cn
www.genomics.cn

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BGI Tech develops whole exome sequencing analysis of FFPE DNA samples to boost biomedicine

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