The multi-ministerial project is overseen by the Ministry of Health and Welfare, Ministry of Trade and Industry, Ministry of Science and ICT, and Korea Disease Control and Prevention Agency. The second pilot will continue to use the NovaSeq(TM) 6000, Illumina's high-throughput DNA sequencing instrument and DRAGEN(TM) Bio-IT Platform analysis tool.
After setting the stage in the first pilot project, establishing a database of 10,000 genomes, the consortium comprising Macrogen, Theragen, DNA Link and Lab Genomics was again selected after a competitive evaluation process that highlighted the overall superiority of Illumina's next-generation sequencing (NGS) platforms.
The second pilot project will analyze the genetic makeup of 12,500 donated DNA samples from Korean patients living with a rare disease.
"Whole-genome sequencing is a powerful tool to identify and analyze the genetic information of patients living with a rare disease and can help end the long search for a diagnosis which can take several years," said Sukang lee, CEO Macrogen. "We are grateful for Illumina's partnership in enabling this important research".
Illumina Vice President and General Manager of Asia Pacific and Japan, Ms Gretchen Weightman, explained that Illumina will continue to bring industry-leading genomic technologies and expertise to deploy the sequencing architecture, data infrastructure and analytical tools that will reveal new insights into the Korean genome.
"We are pleased to continue working with our partners to accelerate the future of health care for Koreans and contribute to the development of treatment technologies and therapeutics," Ms Weightman said.
Over the next year, the resulting data will be used by the Illumina backed consortium to prepare for the main project in analyzing and comparing the genes of 1 million Koreans to advance the country's medical technology and improve future public health.
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Dr. Karen Birmingham