This week it was announced the opening of an ambitious project for the complete sequencing of the genomes of more than 1000 different people around the world. Its purpose is to create a comparative research base and a detailed reference map for understanding the differences between people. Information that will be accessible to the entire scientific community and the entire public
Genetically, the identity between all humans is over 99%. In the question of the remaining percentage of small differences, changes in a single base (SNPs), missing and additions of sequences, one of the most fundamental and extensive projects in the field of the human genome has been seen so far.
This week it was announced the opening of an ambitious project for the complete sequencing of the genomes of more than 1000 different people around the world. Its purpose is to create a comparative research base and a detailed reference map for understanding the differences between people. Information that will be accessible to the entire scientific community and the entire public.
The project will be led by researchers from the Sanger Institute in collaboration with MIT, Harvard, the Center for Genome Sequencing at the University of Washington School of Medicine, the Center for Genome Sequencing at Baylor College of Medicine in Houston and BGI in China. Its expected cost - about 30-50 million dollars. And it is expected to be completed within two years, at a rate of sequencing about two human genomes every day (an average of about 8.2 billion bases per day!).
The project is planned to be evaluated after several initial preparation stages. First, the researchers are expected to sequence in 20 repetitions the genomes of two nuclear families (two parents and an adult child, a total of 6 people). Based on this, choose and plan the most efficient and economical method, as well as create a reference point according to which it will be possible to identify areas where there is genetic variation. In the next step, sequencing of 180 additional genomes in two repetitions each, which will allow further identification of the areas of genetic variation and their genomic context. In the third step, sequencing the coding regions (exon sequences) in about 1000 genes in about 1000 different people. This step will allow the creation of a detailed catalog for about 2% of the active genome. All participants in the early stages of the project will be drawn from another research project called HapMay, which has collected data on hundreds of small genetic variations (SNPs) associated with diseases.
All the volunteers for the project, from whom the DNA samples will be taken, will remain anonymous, and no personal or medical details will be collected from them except for the population group to which they belong.
The new information that will be collected will not only include information on point changes in the genome, but also larger structural changes such as deletions or duplications of sequences. The project will enable a more in-depth understanding of the differences between humans in everything related to the medical and biological field. This information could be used as an effective and relatively easy tool for the identification of many genetic diseases and risk groups for morbidity, even in cases where the genetic changes are rare. In addition, this type of information could help in understanding the differences in the reactions of different people to drugs and environmental factors and form the basis for planning more effective, personalized and accurate treatments.
In addition to the paving teams, the project will include a group of experts who will examine the ethical, legal and social implications of the research. The information collected will be held and disseminated by the European Bioinformatics Institute (EBI) and the National Center for Biotechnology Information (NCBI).
For information on the website of the Sanger Institute in Great Britain
On the same topic on the science site
5 תגובות
Do you think that in the future there will be a genome department in every hospital?
Then every baby that is born will enter their code into the network
And we can buy at the supermarket with crazy genome sales
to Michael-
The question is spot on.
The goal is to create a pedigree map, that is, to identify areas in the genome that change between different people, and to determine how common/rare the changes are.
The aim is to identify the majority of regions that undergo change at a frequency of one percent or more overall in the genome. And in addition - to identify changes that occur with a frequency of 0.5% or less within genes.
Using the "reference map" researchers will be able, for example, to make an informed guess as to which areas of the genome should be focused on when looking for mutations in genes associated with a certain disease, in a focused study, within a family, and this without the need for re-sequencing the genome of all family members. (For example - they will be able to choose to study relevant genes that have changes in the frequency corresponding to the frequency of the disease in the population)
I am sure that it would be possible to find a use for health data regarding the participants in the project, but it is very difficult, based on the data of each individual person, to find a relationship between a trait (phenotype) and genotype without in-depth and detailed research.
It is not clear to me why the people's health data is not collected - especially if you want to use the data for disease research. Since the personal data is hidden, there would not be any harm to the individual's modesty.
to Beelzebub
Very right. Thanks.
The other research project is called HapMap and not HayMap