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Genetics Core:

Human Genomics Component

Heather Mefford photo  Heather C. Mefford, M.D., Ph.D., Coordinator

The Human Genomics Component (HGC) services include:

Direct Services: Resources available at no charge to IDDRC Research Affiliates include consultation on subject enrollment, sample collection, processing, storage, and referral to and interacting with Linked and Coordinated Services. An IRB approved protocol for genetic analysis of research subjects can be utilized for small studies or employed as a starting template for new IRB applications. IDDRC Genetics Core funding provides dedicated consultation and analysis services for IDDRC affiliates provided by Drs. Doherty and Mefford and their staff biostatistician, Ms. Mehaffey. For large dataset analysis, the Center for Clinical Genomics and IDDRC jointly maintain a high-performance compute cluster for genomics related research housed in a secure data center on UW’s Seattle campus. Genomics Workbench software for copy number variant identification is also available to IDDRC affiliates in the Mefford laboratory.

Linked Services: IDDRC Research Affiliates can access key human genetic study resources through user fees in the CCG including:

  • a laboratory information management system (LIMS) for sample processing and tracking
  • equipment needed for quality control and storage of human DNA samples
  • instrumentation and expertise for targeted re-sequencing studies using exon capture with molecular inversion probes (MIPs) followed by massive parallel (next generation) sequencing
  • equipment for array comparative genomic hybridization (aCGH) using catalog or custom oligonucleotide arrays

Coordinated Services: Exome sequencing is performed at the Northwest Genomics Center (NWGC). The NWGC contains all of the equipment and expertise needed to perform whole exome and whole genome sequencing projects. Additionally, NWGC maintains extensive resources for large scale genotyping projects to analyze hundreds or thousands of samples for a specified variant. Through these Coordinated Services, Research Affiliates can access the equipment and expertise needed to perform the following analyses:

  • copy number variant detection
  • targeted capture and re-sequencing
  • exome sequencing

To Use Our Services

Investigators who are interested in using the Human Genomics facility in their projects should:

  • Read about the equipment and services we provide, then
  • Contact Dr. Mefford (hmefford@uw.edu, 206-543-9572).

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University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 •chdd@uw.edu