【bio-news】千人基因组计划：准备测序
丁香园论坛
1021
1000 Genomes Project: ready to sequence
07/05/2010
Erin Podolak
Data from the three pilot projects recently conducted to determine how to sequence human genomes for the 1000 Genomes Project is now available, moving the project into its next phase
The 1000 Genomes Project, an international effort to create a map of the genetic variations in the human genome, may be ready to begin sequencing.
Since it began in 2008, the 1000 Genomes Project has focused on determining the best approach to sequencing. With the recent completion of three pilot projects, researchers should now be ready to begin sequencing, though they have not yet announced plans for the second phase of the project.
"The 1000 Genomes Project has a simple goal: peer more deeply into the genetic variations of the human genome to understand the genetic contribution to common human diseases," Eric D. Green, director of the National Human Genome Research Institute (NHGRI), said in a press release. "I am excited about the progress being made on this resource for use by scientists around the world, and look forward to seeing what we learn from the next stage of the project."
The completion of the pilot projects signals the launch of a full-force effort to establish a public database of human genetic variations from the genome sequences of 2500 people from 27 different populations around the world.
The first strategy involved targeting genome sequencing efforts to only the regions of the genome known to code for genes—sequences known as exons. This amounted to about 1000 genes, and the genomes of 700 people were sequenced to help identify variations among the genetic sequences. However, this would cover only the estimated 2% of the human genome that codes for proteins.
"We also developed new methods to target variation in genes, and showed that this approach gave maximum information about this important class of human variation", Fuli Yu, an assistant professor in the Baylor College of Medicine’s Human Genome Sequencing Center who contributed to the research, said in a press release.
The second pilot projects used next-generation sequencing platforms to map the genomes of six people with high coverage. These people represented two nuclear families that included parents and daughters. Each sample was sequenced 20–60 times to uncover a clear picture of genetic variation among family members.
The last project sequenced the genomes of 179 people in less detail that the other two pilot studies. The researchers sequenced each sample approximately four times, and then combined the data with that of different people to compare genetic variations. This method provided insight into how genomic variations are shared among people and populations.
The data generated by the three pilot projects is now available in online databases that are freely available to the research community through the 1000 Genomes website, the National Center for Biotechnology Information, and the European Bioinformatics Institute. However, it is still unclear which of these methods will be used to complete the project, and when the next phase will begin.
The pilot strategies were researched by Baylor College of Medicine's Human Genome Sequencing Center, the Wellcome Trust Sanger Institute, BGI Shenzhen (China), the Broad Institute, Washington University in St. Louis School of MedicineGenome Sequencing Center, and Boston College.
07/05/2010
Erin Podolak
Data from the three pilot projects recently conducted to determine how to sequence human genomes for the 1000 Genomes Project is now available, moving the project into its next phase
The 1000 Genomes Project, an international effort to create a map of the genetic variations in the human genome, may be ready to begin sequencing.
Since it began in 2008, the 1000 Genomes Project has focused on determining the best approach to sequencing. With the recent completion of three pilot projects, researchers should now be ready to begin sequencing, though they have not yet announced plans for the second phase of the project.
"The 1000 Genomes Project has a simple goal: peer more deeply into the genetic variations of the human genome to understand the genetic contribution to common human diseases," Eric D. Green, director of the National Human Genome Research Institute (NHGRI), said in a press release. "I am excited about the progress being made on this resource for use by scientists around the world, and look forward to seeing what we learn from the next stage of the project."
The completion of the pilot projects signals the launch of a full-force effort to establish a public database of human genetic variations from the genome sequences of 2500 people from 27 different populations around the world.
The first strategy involved targeting genome sequencing efforts to only the regions of the genome known to code for genes—sequences known as exons. This amounted to about 1000 genes, and the genomes of 700 people were sequenced to help identify variations among the genetic sequences. However, this would cover only the estimated 2% of the human genome that codes for proteins.
"We also developed new methods to target variation in genes, and showed that this approach gave maximum information about this important class of human variation", Fuli Yu, an assistant professor in the Baylor College of Medicine’s Human Genome Sequencing Center who contributed to the research, said in a press release.
The second pilot projects used next-generation sequencing platforms to map the genomes of six people with high coverage. These people represented two nuclear families that included parents and daughters. Each sample was sequenced 20–60 times to uncover a clear picture of genetic variation among family members.
The last project sequenced the genomes of 179 people in less detail that the other two pilot studies. The researchers sequenced each sample approximately four times, and then combined the data with that of different people to compare genetic variations. This method provided insight into how genomic variations are shared among people and populations.
The data generated by the three pilot projects is now available in online databases that are freely available to the research community through the 1000 Genomes website, the National Center for Biotechnology Information, and the European Bioinformatics Institute. However, it is still unclear which of these methods will be used to complete the project, and when the next phase will begin.
The pilot strategies were researched by Baylor College of Medicine's Human Genome Sequencing Center, the Wellcome Trust Sanger Institute, BGI Shenzhen (China), the Broad Institute, Washington University in St. Louis School of MedicineGenome Sequencing Center, and Boston College.
