BATON ROUGE Genetic diseases impact millions around the world each and every day. Complex medical conditions with genetic predispositions, such as hypertension, can also weigh heavily on our lives. Susceptibility to hypertension has many genetic components and often goes undiagnosed until a person has signs of advanced disease.
Many imagine a day when science will give us the tools to discover how to work with these genetic issues and discover ways to not only diagnose, but to use them to our advantage as individuals. LSU Boyd Professor Mark Batzer and an international consortium of hundreds of the world's best and brightest experts have come together to tackle the 1,000 Genomes Project, which aims to provide a deep understanding of human genome sequence variation. It will be a foundation for investigating the relationship between genotypes coded, internal information stored in our genes and phenotypes, the outward expressions of those genes. Moreover, the 1,000 Genomes Project will contribute to our understanding of the impact of non-coding sequences and identify areas of high variation with the human population. The pilot study, "A map of human genome variation from population-scale sequencing," is complete with detailed analyses of the first 185 genomes sequenced and will be published on Oct. 28 in the prestigious scientific journal Nature.
"This is the biggest study of human variation and diversity ever attempted," Batzer said, one of the principal investigators in the group. "The pilot project helped us to develop our methodology and to really get a scope on the breadth of human variation."
Batzer said that so far, the group had discovered far more variability within the human genome than was ever expected. Though the pilot study only reports the analysis of the first 185 sequenced genomes, the group is currently more than halfway to their overall goal of 2,500 genome sequences.
The first human genome was seque
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Louisiana State University