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Human Genetics and Genomics

Description

The ICTS Human Genetics and Genomics program relies on existing Washington University infrastructures: the Genome Sequencing Center (GSC), the Center for Genome Sciences (CGS) and the Division of Statistical Genomics (DSG)

Genome Sequencing Center: focuses on the large scale generation and analysis of genomic variants. The open sharing of genomics methodology and the rapid release of sequence data via the GSC website serves to empower other researchers and facilitates the elucidation of gene function. The GSC is currently focused on:

  • de novo sequencing and analysis of a number of additional primate (and other animal) genomes (in order to better annotate and understand the human genome)
  • Application of new, more highly parallel sequencing technologies so that individual genomes can be sequenced faster and more economically)
  • Re-sequencing from carefully phenotyped patient cohorts, of selected genes and control elements that appear to be correlated with specific human disease susceptibility and pathogenesis.
  • High throughput genome-wide SNP genotyping for both the Illumina and Affymetrix platforms
  • Microarray expression profiling

Center for Genome Sciences: serves as home to an interdisciplinary, multi-departmental team of investigators from multiple schools who focus on comparative genomics, statistical genomics and systems biology. The CGS serves as the “proving ground” for developing new strategies for educating students and faculty who wish to work at the interface of the biological, physical, computational and engineering sciences.

Division of Statistical Genomics: affiliated with the Washington University Department of Genetics, this division is organizationally within the Center for Genome Sciences. It provides scientific expertise in statistical genetic and genomic analysis, the design of genetic studies (family, trio, case-control, cohort, etc.), the conduct of high throughput linkage and association analysis, and complex systems biology models.

Services Available to ICTS Members

ICTS investigators have 3 principle points of entry into our existing infrastructure for genomics research involving patient populations:

  • Approach the GSC, CGS and/or the DSG for submission of a traditional hypothesis-based federal or non-federal research proposal – this requires substantial preliminary data
  • Develop preliminary data through a Pilot and Feasibility program, overseen by the Center for Genome Sciences (CGS) - this investigator-initiated, merit-based (peer-reviewed) program provides assistance with study design through the CGS (e.g., its Division of Statistical Genomics), and funds to support a yearlong sequencing project in the GSC
  • Access biospecimens deposited in a centralized translational pathology core facility