Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Whole genome sequencing of Japanese individual reveals wealth of undiscovered genetic variation

25.10.2010
Researchers at the RIKEN Center for Genomic Medicine (CGM) have uncovered hundreds of thousands of previously unknown variations in the human genome using new massively parallel sequencing technology.

The findings, based on the complete sequencing of the genome of a single Japanese individual, provide vital clues on the role of rare genetic variants in disease susceptibility.

In recent years, advancements in DNA genotyping technologies have produced increasingly detailed information on the genetic variants, known as single nucleotide polymorphisms (SNPs), implicated in susceptibility to common diseases. Such technologies, however, target only common variants, whose influence on susceptibility is limited, leaving unaddressed the role of rare or novel variants.

Results of the research group’s study, published in the journal Nature Genetics, mark a key step toward clarifying this role. Using massively parallel sequencing technology, one of the most powerful tools for discovering genome-wide variation, the group analyzed the complete genome of a Japanese individual, the first time this has ever been done.

Using a Bayesian decision method, the group identified over 3 million single nucleotide variations (SNVs), the most abundant and important type of variants in the human genome. Comparing these results to the genomes of six individuals from countries around the world reported in earlier studies, the group found numerous SNVs with an influence on gene function that had been previously overlooked. The group also identified 3 million base pairs of novel sequence not present in reference data from the Human Genome Project.

As the first whole genome sequencing of a Japanese individual, the results offer valuable insights on disease susceptibility among Japanese people. They also highlight the rich diversity still remaining in the human genome, and the power of whole genome sequencing as a means to discovering it.

For more information, please contact:

Dr. Tatsuhiko Tsunoda
Laboratory for Medical Informatics
RIKEN Center for Genomic Medicine
Tel/Fax: +81-(0)45-503-9556
Ms. Tomoko Ikawa (PI officer)
Global Relations Office
RIKEN
Tel: +81-(0)48-462-1225 / Fax: +81-(0)48-463-3687
Email: koho@riken.jp
Reference:
Akihiro Fujimoto, Hidewaki Nakagawa, Naoya Hosono, Kaoru Nakano, Tetsuo Abe, Keith A Boroevich, Masao Nagasaki, Rui Yamaguchi, Tetsuo Shibuya, Michiaki Kubo, Satoru Miyano, Yusuke Nakamura, and Tatsuhiko Tsunoda. Whole genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing. Nature Genetics (2010). DOI: 10.1038/ng.691

gro-pr | Research asia research news
Further information:
http://www.riken.jp
http://www.researchsea.com

More articles from Life Sciences:

nachricht Transport of molecular motors into cilia
28.03.2017 | Aarhus University

nachricht Asian dust providing key nutrients for California's giant sequoias
28.03.2017 | University of California - Riverside

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: A Challenging European Research Project to Develop New Tiny Microscopes

The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.

To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Transport of molecular motors into cilia

28.03.2017 | Life Sciences

A novel hybrid UAV that may change the way people operate drones

28.03.2017 | Information Technology

NASA spacecraft investigate clues in radiation belts

28.03.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>