CTC Life Science Corporation (headquartered in Setagaya-ku, Tokyo; Ryouji Yokoyama, President and Representative Director; hereinafter "CTCLS"), a CTC Group company that provides systems to the life science industry including pharmaceutical companies, announced today it has signed Japan's first distribution agreement with Appistry Inc. (headquartered in Missouri, United States; Kevin Haar, President and CEO; hereinafter, "Appistry") for the software Genome Analysis Toolkit (hereinafter "GATK"). GATK is intended exclusively for analyzing data from next-generation gene sequencers (i.e., devices used to identify gene sequences). CTCLS will provide one-stop services ranging from sales of GATK to support for creation of workflows for using GATK, response to inquiries in Japanese, and development of IT infrastructure that suits customers' conditions such as storage for big data and large-scale computing. The sales target for the first fiscal year is 200 million yen.
GATK is a data analysis software for next-generation sequencers (NGS)*1. It was developed by the Broad Institute of MIT and Harvard (hereinafter, "BI"), a biomedical research institute in the United States, and it started to be distributed for free in 2009. GATK has been used by more than 1,000 users all over the world, and adopted for research projects including the 1000 Genomes Project*2, an international collaboration to produce an extensive public catalog of human genetic variation, and the Cancer Genome Atlas*3, a cancer genome research project in the United States.
In response to the increasing use of GATK, from academic institutes to business enterprises, Appistry acquired the exclusive right of distribution support from BI in 2012 while BI continues free distribution to academic institutes. For business enterprises, Appistry sells licenses for GATK's commercial version and provides installation and document support services for a fee. With Appistry providing support for distribution to business enterprises, BI is now able to concentrate its resources on software development and enhancement.
Application examples and features of GATK
GATK is capable of analyzing genetic mutations from huge amounts of data generated with next-generation sequencers. GATK is applied in fields including cancer research for discovering somatic mutations by using samples of cancer and discovery/ prediction of biomarkers to explore the possibility of sequence mutations in genetic diseases. Major features of GATK are as follows:
- It contains approximately 70 programs, enabling users to establish analytical flows that combine multiple programs.
- It comes with a function for pre-analysis check of the quality of primary data in BAM files*4 obtained from NGS. This enables efficient acquisition of more accurate results than analysis of unchecked data.
- The combination of two functions for detecting genetic mutations enables higher precision of analytical results.
About Appistry Inc.
Established in 2001, Appistry is a provider of solutions for big data analysis and operations. Combining high performance computing and unique analytics, the company provides high-throughput, highly scalable solutions for a wide range of applications including medicine, finance, and information and telecommunications. In recent years, the demand for individualized medicine and treatments based on genetic mutation analysis with NGS has grown in the life science industry. To respond to needs for analyses and operation of a vast amount of data generated from NGS, Appistry focuses on the analysis and operation of big data related to life sciences.
About the Broad Institute of MIT and Harvard
The Broad Institute is a research organization operated jointly by Harvard University and the Massachusetts Institute of Technology (MIT). It was founded by Los Angeles-based philanthropists Eli and Edythe Broad in 2003. With a focus on research of individualized medicine based on genome-based knowledge, BI engages in the development of new tools and techniques for treatment of diseases and diagnostic measures as well as in the development of data for publication to the overall scientific community.
- *1Next-generation sequencer(NGS)
It is a generic name for gene sequencing devices that can sequence base pairs in parallel by applying methods that use fluorescence, emission of light, and other methods. These devices have significantly improved genetic analytical capabilities.
- *21000 Genomes Project
It is a joint international research project aimed at establishing a catalog of human genetic variation. The name comes from the fact that it aims to analyze the DNA sequence of more than 1,000 anonymous individuals from different ethnic groups. The goal of this project is to enable identification of genomic variations that will serve as the basic data in the search for causes of diseases and also serve as a dataset for genome research to be available to the public.
- *3The Cancer Genome Atlas
This is a US joint project funded by the National Cancer Institute (NCI), which is part of the National Institutes of Health (NIH), and the National Human Genome Research Institute (NHGRI). It aims at revealing genetic mutations related to cancers that will be useful for preventing and treating cancers.
- *4BAM file
It is a unified format for results of gene sequence mapping. It is a binary file used frequently for NGS analysis.
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