Research consists of large-scale characterization and analysis of common CNVs in relation to diabetes.

The Korea Centers for Disease Control and Prevention (KCDC) and Macrogen will conduct an eight-month copy number variation (CNV) study of Korean individuals using Roche NimbleGen instrumentation. This two-phase study will include large-scale characterization of CNVs in Korean populations and analysis of common CNVs in genome-wide association studies for diabetes.

Phase 1 of the Korean CNV study will include analysis of 50 apparently healthy individuals with a set of custom NimbleGen CGH 2.1M arrays that consists of 42 million probes distributed uniformly across the entire human genome. This array set will enable detection of CNVs down to ~500 bp resolution and the creation of the highest resolution map of CNVs in Korean populations, the organizations claim.

In the second phase of research, the impact of CNVs on human disease will be addressed in a genome-wide association study focused on diabetes mellitus type 2. DNA samples from 6,000 individuals from the Anseong and Ansan populations from South Korea will be analyzed using the NimbleGen 3x720K CNV v1.0 Array. Macrogen will perform high-throughput sample and data processing using the complete NimbleGen CGH workflow.

Kap-Seok Yang of Macrogen notes that NimbleGen CGH/CNV arrays were selected for this project, “because they offer more sensitive data with higher accuracy of breakpoint information to detect CNVs than arrays from any other vendor.”

This CNV study is an extension of the KARE (Korean Association Resource) project that has been focused on identifying SNP associations with various diseases.

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