The Biomedical Genomics Core (BGC) is a nationally recognized “Certified Service Provider” of expertise in multiple aspects of genomics analysis, including consultation and assistance with experimental design, quality control of starting material (DNA or RNA), next-generation sequencing and basic data processing.
We are a shared resource of The Research Institute at Nationwide Children’s Hospital, providing service to both internal and external investigators. Our main areas of specialization are sequencing and bioinformatics analysis.
The BGC Sequencing Unit has over five years of experience with next-generation sequencing analysis. We assist investigators with multiple aspects of next-generation sequencing, including library preparation and sequence generation.
The core is equipped with three Next-Generation Sequencing (NGS) systems. We have two ultra-high throughput systems: the Illumina HiSeq 2500 (installed May 2010) and the very latest Illumina HiSeq 4000 (installed August 2015) which is capable of producing 1000 billion base pairs (1 TB) of sequence data, enabling us to sequence 12 human genomes at 30X coverage in a single 3 day instrument run. Additionally, the Illumina MiSeq can rapidly produce up to 15 GB of 2 X 300 base pair reads in less than 40 hours of run time.
These technologies are being utilized by our research investigators for multiple applications including human genome re-sequencing studies for rare variant discovery and structural variation analysis (both targeted capture and whole genome), gene expression and transcriptome analysis (RNA-Seq and miRNA-Seq of both eukaryotes and prokaryotes), epigenomic studies including DNA-Protein interaction analysis (ChIP-Seq) and methylation analysis (Methyl-Seq), metagenomics and de novo genome assembly of both bacterial and viral genomes.
Bioinformatics analysis of data generated using these array platforms is provided on a collaborative basis at subsidized hourly rates. The Bioinformatics Unit is comprised of a dynamic team of four computational biologists, with the substantial technical and bioinformatics expertise required to oversee the multiple platforms that acquire, store and analyze large and complex data sets generated by the BGC Microarray and Sequencing Units. Integration of this team within the BGC is critical to its success, ensuring that team members are able to learn new methodologies and develop novel analysis approaches in pace with the technological growth that has become a primary driving force for biological discovery.
The bioinformatics unit provides services on a collaborative basis and serves as an interface between the research investigator and the multiple domains that are required to handle the size and complexity of genomic data. With our high performance compute cluster and 700TB of clustered high performance disk space we are able to support the analysis of both large and small scale sequencing projects. We are uniquely positioned to adapt and develop new computational tools in a manner that is driven by the demands of our research community as it utilizes new technologies.
As a part of Dr. Peter White’s research group, the BGC Bioinformatics Unit also focuses on the development of analytical pipelines for NGS analysis, including, but not limited, to transcriptomics (RNA-Seq and miRNA-Seq), human genome resequencing, exome capture and the identification of disease causing genetic variants. Through development of the balanced parallelization strategy for human genome analysis (named “Churchill”), we were successfully able to reduce the time taken to go from raw sequencer output to final variant calls from days to under two hours.
In addition to developing our own bioinformatics tools, the unit also evaluates and supports multiple software products for genomics applications that are designed to make data analysis tools accessible to biologists.