Human Genomics Component

The Northwest Genomics Center (NWGC) is led by Dr. Evan Eichler, PhD, Professor of Genome Sciences at the University of Washington, a leader in the field of genomics. The NWGC is a premier next-generation sequencing (NGS) and genotyping center located within the Department of Genome Sciences at the University of Washington in Seattle, WA. It provides top quality services and has the capacity for large-scale, high-throughput sequencing and genotyping, including custom projects. More specifically, the NWGC offers full pipeline services for investigators who have extracted RNA or DNA from their own samples. The process includes quality control, library construction, sequencing, and data release. A project manager is assigned to each project and guides the investigator through the process. In addition, the NWGC also offers a full suite of genotyping assays performed using Illumina BeadChip Array and Thermo Fisher TaqMan Openarray technologies. This allows for analyzing genetic variation on any scale, providing expanded genomic coverage for targeted genotyping and methylation profiling, suited for your needs. The NWGC services website provides more detailed information.

In addition, the CCG also facilitates long-read sequencing.

THE NWGC is supported by considerable computing hardware and software resources to facilitate rapid data analysis.

University of Washington Center for Rare Disease Research is directed by Drs. Bamshad and Eichler who are leaders in the Genomics field. The mission of the Center is toidentify the causes of Mendelian disorders, improve methods for gene discovery, collect clinical information and samples for patients with likely genetic conditions

The principal investigators for the Center (Drs. Bamshad and Eichler) are consultants to the IDDRC Genetics Core. The UW CRDR collects and stores samples and the Northwest Genomics Center performs the sequencing for the UW CRDR. IDDRC Affiliates have a long track record of publishing human disease gene discovery papers with the UW CRDR. The UW CRDR website provides more detailed information as to all the services it offers.

The University of Washington also hosts one of 12 NIH-funded Undiagnosed Diseases Network (UDN) Clinical Sites (NHGRI U01HG010233). The UDN is motivated by the dual goals of providing a diagnosis to patients who have undergone a protracted unsuccessful diagnostic odyssey and by the opportunities for scientific discovery that these unique patients offer. The UDN’s impact also extends to systematizing the approach to the undiagnosed patient. The IDDRC works closely with the UDN to identify patients with IDDs in whom the cause remains unknown, leveraging the enormous gene discovery, pharmacogenetics, environmental genetics, translational bioinformatics, bioethics, and healthcare outcomes resources available at UW and through the UDN across the US.

The Brotman Baty Institute (BBI) ) was launched in 2017 after a large private donation to the University. The BBI is a partnership between UW, Seattle Children’s and the Fred Hutchinson Cancer Research Center to advance the development and application of precision medicine approaches in a clinical setting. Major areas of focus for the BBI include the development of single cell atlases of human disease, high-throughput assays for disease gene variant classification, and clinical laboratory test development. The BBI website (https://brotmanbaty.org/about) provides more detailed information. Members of BBI, many of whom are CHDD affiliates, receive priority access for BBI technologies and funding mechanisms.

The University of Washington’s Proteomics Resource (UWPR) is a proteomics facility whose mission is to advance proteomic technologies and apply these technologies to significant biological problems. The UWPR performs experiments motivated by UWPR members as well as on projects with the larger UW community. The UWPR is operated as a cost center through which institutional users (academic, non-profit and corporate) contribute to the upkeep of the resource by means of a recharge system. Rates are based on the operating costs and individual instrument usage. The UWPR is located at the UW’s South Lake Union (SLU) campus and provides access to state of the art instrumentation and computational support for resource members and their collaborators. The UWPR wet chemistry and instrument laboratory space includes over 3500 sq. ft. The instrumentation room has been specifically designed to accommodate mass spectrometry instrumentation. The UWPR website provides extensive information on its state of the art mass spec and other equipment. The UWPR has an extensive computing infrastructure available to handle data analysis with ease.

The Northwest Metabolomics Research Center (Director: Dr. Daniel Raftery;) and the UW School of Pharmacy Mass Spectrometry Center (Director: Dale Whittington) provide resources to generate metabolomics data. Both of these facilities have a wide range of state-of-the-art mass spec instrumentation to assist with metabolomics analysis.