CHOP and BGI to Offer Next-Generation Sequencing

Published on in CHOP News

October 25, 2012 — The Children’s Hospital of Philadelphia (CHOP) and BGI announced today that the BGI@CHOP Joint Genome Center will begin to offer clinical next-generation sequencing (NGS) services at CHOP through the hospital’s Department of Pathology and Laboratory Medicine in a CAP/CLIA-compliant environment.

The Clinical Laboratories Improvement Act of 1988 (CLIA) established quality standards for all laboratory testing to ensure the accuracy, reliability and timeliness of patient test results regardless of where the test was performed. The College of American Pathologists (CAP) Laboratory Accreditation Program is widely recognized as the “gold standard,” since it meets or exceeds CLIA requirements and serves as a model for various federal, state, and private laboratory accreditation programs throughout the world.

Supported by CHOP’s and BGI’s excellent infrastructure and extensive experiences in NGS services, the BGI@CHOP Joint Genome Center was established in November 2011 under the partnership between CHOP and BGI to focus on discovery of genes underpinning rare and common pediatric diseases using next-generation sequencing.

Robert W. Doms, MD, PhD, pathologist-in-chief and chair of Pathology and Laboratory Medicine at CHOP, said, “The BGI@CHOP Joint Genome Center, operating under the umbrella of the CAP-certified Molecular Genetics Lab at CHOP, plans to launch clinical exome sequencing in the near future.”

Catherine Stolle, PhD, director of CHOP’s Molecular Genetics Laboratory, added, “This CAP-compliant NGS facility will enable us to rapidly expand into clinical NGS tests for diagnosis of specific diseases including heritable disorders and pediatric cancer.”

"BGI has been offering NGS and NGS data analysis services in a research setting since 2007," Dr. Jun Wang, executive director of BGI, said in a statement. "By working together with the CHOP Pathology Department, we will be able to leverage our NGS expertise to help clinicians better diagnose and treat their patients. BGI will also be able to extend our services to support new drug development and pharmaceutical clinical trial studies in compliance with CAP and CLIA standards.”

At present, the Joint Genome Center is equipped with five high-throughput sequencers with the permanent space under renovation, and plans to scale up to 20 sequencers. The center has embarked on a number of projects with CHOP researchers, including an NIH-funded research grant to explore the use of NGS in a clinical diagnostic setting (co-led by Ian Krantz, MD, and Nancy Spinner, PhD). The Center’s service portfolio includes human whole exome sequencing, targeted sequencing, whole genome re-sequencing, specialized applications such as ChIP-Seq and RNA-Seq, and NGS data analysis.

About The Children’s Hospital of Philadelphia

The Children’s Hospital of Philadelphia was founded in 1855 as the first pediatric hospital in the United States. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide and its pediatric research program is among the largest in the U.S. In addition, its unique family-centered care and public service programs have brought the 516-bed hospital recognition as a leading advocate for children and adolescents. 

About BGI

BGI was founded in Beijing, China, in 1999 with the mission to become a premier scientific partner for the global research community. The goal of BGI is to make leading-edge genomic science highly accessible, which it achieves through its investment in infrastructure, leveraging the best available technology, economies of scale, and expert bioinformatics resources. BGI, which includes both private nonprofit genomic research institutes and sequencing application commercial units, and its affiliates, BGI Americas, headquartered in Cambridge, MA, and BGI Europe, headquartered in Copenhagen, Denmark, have established partnerships and collaborations with leading academic and government research institutions as well as global biotechnology and pharmaceutical companies, supporting a variety of disease, agricultural, environmental, and related applications.

BGI has a proven track record of excellence, delivering results with high efficiency and accuracy for innovative, high-profile research: research that has generated over 200 publications in top-tier journals such as Nature and Science. BGI’s many accomplishments include: sequencing one percent of the human genome for the International Human Genome Project, contributing 10 percent to the International Human HapMap Project, carrying out research to combat SARS and German deadly E. coli, playing a key role in the Sino-British Chicken Genome Project, and completing the sequence of the rice genome, the silkworm genome, the first Asian diploid genome, the potato genome, and, more recently, the human Gut Metagenome, as well as a significant proportion of the genomes for the1000 Genomes Project.

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John Ascenzi, public relations, Children’s Hospital of Philadelphia, 267-426-6055,

Joyce Peng, PhD, marketing director, BGI Americas Corporation, 626-222-5584,

Bicheng Yang, public communication officer, BGI, +86-755-82639701,