Featured Research

from universities, journals, and other organizations

Multiple genome sequencing yields detailed map of structural variants behind our genetic differences

Date:
February 2, 2011
Source:
Boston College
Summary:
The 1000 Genomes Project reports that the global team has created the most comprehensive map yet of genomic structural variants. These new revelations about the base layer of DNA that begins to distinguish us from one another move the project closer to its overall goal of using genetic data to understand in fine detail how genetics influence human health and development.

Analyzing billions of pieces of genetic data collected from people around the world, Boston College biologist Gabor Marth and his research team are playing an integral role in the global effort to sequence 1000 genomes and move closer to understanding in fine detail how genetics influence human health and development.

Related Articles


The most comprehensive map to date of genomic structural variants -- the layer of our DNA that begins to distinguish us from one another -- has been assembled by analyzing 185 human genomes, Marth and co-authors from the 1000 Genomes Project team report in the Feb. 3 edition of the journal Nature.

The complexity of the 1000 Genome Project draws on a range of expertise in the Marth bioinformatics lab, which receives volumes of data produced by other project teams using DNA sequencing technology, stores the data, and then analyzes it using proprietary computer software programs the Marth lab has developed.

"The tools we have developed are being used to discover a biological reality that we could not see before," said Marth, an associate professor of biology whose group is one of the lead analytics units for the 1000 Genomes Project. "There are many challenges and the work is very exciting."

The goal is to understand the genetic make up of the earth's population by analyzing genome data from as many as 2,500 individuals in order to provide new insights into the development of the human race and to understand the links between the genome and human health.

"We are working with some of the world's best research groups," said Marth, joined as a co-author on the paper with his BC colleagues Research Assistant Professor Chip Stewart and doctoral candidates Deniz Kural and Jiantao Wu.

"There are engineering, mathematical, and algorithmic challenges at every level," Marth added. "We work to make sure our computational tools are performing well, make continuous improvements and process data in a timely fashion to send to our colleagues around the world."

The researchers report in Nature the generation of a map of structural variants -- those pieces of genetic code that are the base layer of instructions, also known as the genotype, that ultimately determine our outward appearances and characteristics, or phenotypes. The new map is built upon a range of structural variants, including 22,025 deletions, or missing pieces of DNA, and 6,000 insertions, pieces of DNA that have been added along the evolutionary journey, and tandem duplications.

The analysis has produced new insights into genetic selection, the introduction of large structural variants into DNA and structural variant "hotspots" formed by common biological mechanisms, the team reports in Nature. The map will play a crucial role in sequencing-based association studies, where this new understanding of human variation is applied to unlocking new ways to use the genome to understand the world's population and to inform the life and medical sciences.

"The eventual goal of studying the genotype is so we can understand how the specific genetic make-up of an individual is responsible for an individual phenotype, such as height or weight or susceptibility to disease," said Marth. "The specific question of the 1000 Genome Project is how much divergence, or how much genetic variation, exists within different populations. That is the question we are trying to unravel."


Story Source:

The above story is based on materials provided by Boston College. Note: Materials may be edited for content and length.


Journal Reference:

  1. Ryan E. Mills, Klaudia Walter, Chip Stewart, Robert E. Handsaker, Ken Chen, Can Alkan, Alexej Abyzov, Seungtai Chris Yoon, Kai Ye, R. Keira Cheetham, Asif Chinwalla, Donald F. Conrad, Yutao Fu, Fabian Grubert, Iman Hajirasouliha, Fereydoun Hormozdiari, Lilia M. Iakoucheva, Zamin Iqbal, Shuli Kang, Jeffrey M. Kidd, Miriam K. Konkel, Joshua Korn, Ekta Khurana, Deniz Kural, Hugo Y. K. Lam, Jing Leng, Ruiqiang Li, Yingrui Li, Chang-Yun Lin, Ruibang Luo, Xinmeng Jasmine Mu, James Nemesh, Heather E. Peckham, Tobias Rausch, Aylwyn Scally, Xinghua Shi, Michael P. Stromberg, Adrian M. Stόtz, Alexander Eckehart Urban, Jerilyn A. Walker, Jiantao Wu, Yujun Zhang, Zhengdong D. Zhang, Mark A. Batzer, Li Ding, Gabor T. Marth, Gil McVean, Jonathan Sebat, Michael Snyder, Jun Wang, Kenny Ye, Evan E. Eichler, Mark B. Gerstein, Matthew E. Hurles, Charles Lee, Steven A. McCarroll, Jan O. Korbel. Mapping copy number variation by population-scale genome sequencing. Nature, 2011; 470 (7332): 59 DOI: 10.1038/nature09708

Cite This Page:

Boston College. "Multiple genome sequencing yields detailed map of structural variants behind our genetic differences." ScienceDaily. ScienceDaily, 2 February 2011. <www.sciencedaily.com/releases/2011/02/110202132330.htm>.
Boston College. (2011, February 2). Multiple genome sequencing yields detailed map of structural variants behind our genetic differences. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2011/02/110202132330.htm
Boston College. "Multiple genome sequencing yields detailed map of structural variants behind our genetic differences." ScienceDaily. www.sciencedaily.com/releases/2011/02/110202132330.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) — Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) — Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) — According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. Video provided by Newsy
Powered by NewsLook.com
Flu Outbreak Closing Schools in Ohio

Flu Outbreak Closing Schools in Ohio

AP (Dec. 17, 2014) — A wave of flu illnesses has forced some Ohio schools to shut down over the past week. State officials confirmed one pediatric flu-related death, a 15-year-old girl in southern Ohio. (Dec. 17) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins