A landmark project that has sequenced 1,092 human genomes from individuals around the world will help researchers to interpret how genes vary
An integrated map of genetic variations
- Date : 06 Nov 2012
- Topic : Personalised medicine
Thanks to powerful computational tools, more than 100 scientists from around the world have genetically mapped the largest and most varied number of human genomes to date. The scientists sequenced and analysed a pool of 1092 human genomes of individuals from 14 different populations (five from Europe; three from Africa; three from East Asia; three from the Americas).
Delving into a larger and more varied pool of genetic information has enabled the scientists to discover more numerous and rarer genetic variations than previously known. Their findings were published in the journal Nature. Professor Gil McVean of Oxford University is the lead author for the study.
Rare genetic variants are very important: their patterns of sharing among different individuals can reveal aspects of population history. They are also very important in disease association studies, which aim often today to associate rare variants with diseases of genomic origin.
The researchers have yet to figure out what their latest genetic cache means in terms of population health and diseases. They are sifting through 38 million variations in a single nucleotide of DNA and 1.4 million small insertions and deletions and more than 14 thousand larger deletions in DNA sequences. This kind of sequencing is extremely important for medical genetic studies in many populations. In fact, there are plans to extend genomic mapping to 1,500 more people representing 11 new populations.
The first study to break the '1000 genomes barrier'
This study will enable scientists to begin to examine genetic variations at the scale of the populations of individual countries, as well as guiding them in their search for the rare genetic variations related to many diseases. The vast majority of genetic variation is shared with populations around the world but it is thought that a lot of the contribution to disease may come from rare variants of genes, found in 1 in 100 people or fewer. The international team behind the 1000 Genomes Project found that rare gene variants tend to be restricted to particular geographic regions, because they typically arise from more recent mutations since humans spread across the world. By, for the first time, drilling down to genetic variants occurring at the scale of 1 in 100 people this study will enable researchers to interpret an individual's genome in the context of the genetic variation found in their own national population.
The study has been designed so that, as well as the genome data, researchers have access cell lines from all 1,092 of the individuals whose genomes have been sequenced. Scientists can now study how differences in the biology of these cells correlate with genetic differences.
The team's work is already being used to screen cancer genomes for mutations that might identify therapeutic pathways, to interpret the genomes of children with developmental disorders and to pin-point variation that leads to increased risk for complex diseases such as heart disease or multiple sclerosis.
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