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

September 18, 2012

BGI Tech Solutions 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 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 is detrimental, which can induce modification of nucleotide molecules, such as , 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 , library construction and sequencing pipelines of FFPE . 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 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."

Explore further: BGI achieves next-gen sequencing analysis of FFPE DNA as low as 200 ng

Related Stories

BGI achieves next-gen sequencing analysis of FFPE DNA as low as 200 ng

March 8, 2012
BGI, the world's largest genomics organization, reported that it can use next-generation sequencing to analyze DNA as low as 200 ng from formalin-fixed paraffin-embedded (FFPE) samples. This advancement enables researchers ...

Genomic study of rare children's cancer yields possible prognostic tool

August 9, 2012
A new study of the genetic makeup, or genome, of Ewing sarcoma, a rare cancer that strikes children, teenagers, and young adults, has produced multiple discoveries: a previously unknown sarcoma subtype, genetic factors related ...

BGI, Children's Hospital of Philadelphia launch the 1,000 Rare Diseases Project

June 18, 2012
BGI, the world's largest genomics organization, and The Children's Hospital of Philadelphia (CHOP) today announced that they have jointly initiated the 1,000 Rare Diseases Project with the aim of accelerating the discovery ...

Patients with rare diseases to get DNA sequenced at no charge

March 1, 2012
Rare genetic diseases, long overlooked because they affect relatively few people, are getting new attention. Scientists at Washington University School of Medicine in St. Louis are reaching out to patient advocacy groups ...

Recommended for you

New approach to studying chromosomes' centers may reveal link to Down syndrome and more

November 20, 2017
Some scientists call it the "final frontier" of our DNA—even though it lies at the center of every X-shaped chromosome in nearly every one of our cells.

Genome editing enhances T-cells for cancer immunotherapy

November 20, 2017
Researchers at Cardiff University have found a way to boost the cancer-destroying ability of the immune system's T-cells, offering new hope in the fight against a wide range of cancers.

A math concept from the engineering world points to a way of making massive transcriptome studies more efficient

November 17, 2017
To most people, data compression refers to shrinking existing data—say from a song or picture's raw digital recording—by removing some data, but not so much as to render it unrecognizable (think MP3 or JPEG files). Now, ...

Genetic mutation in extended Amish family in Indiana protects against aging and increases longevity (Update)

November 15, 2017
The first genetic mutation that appears to protect against multiple aspects of biological aging in humans has been discovered in an extended family of Old Order Amish living in the vicinity of Berne, Indiana, report Northwestern ...

US scientists try first gene editing in the body

November 15, 2017
Scientists for the first time have tried editing a gene inside the body in a bold attempt to permanently change a person's DNA to try to cure a disease.

Genetic variant prompts cells to store fat, fueling obesity

November 13, 2017
Obesity is often attributed to a simple equation: People are eating too much and exercising too little. But evidence is growing that at least some of the weight gain that plagues modern humans is predetermined. New research ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.