Ensuring Genomic Research Represents the Worlds Diversity

Ensuring Genomic Research Represents the Worlds Diversity ...

Scientists have developed a powerful, integrated and complementary program for genomic research that will further work to develop more precise treatments for many diseases by employing a greater representation of the genetic diversity of individuals around the world.

The present invention will allow researchers to compare natural variations in our genes with genome sequences collected from a wide spectrum of people. Until now, scientists have compared these variations with a reference genome primarily collected from a few volunteers (70% from one person) living near laboratories involved in the Human Genome Project almost 20 years ago. This represented genomes from a small number of people in a relatively large number of countries.

Giraffe, a new software program, allows the use of a much more diverse and inclusive reference point. Instead of relying on a single reference genome, Giraffe uses a pangenome that reveals information about genome sequences from people around the world. This will give scientists a much more global perspective and help them understand why diseases are prevalent in some populations disproportionately.

Giraffe, which is used for the vast majority of reference graphs that reduce bias in human genome references, has a significant impact on precision medicine and applications to understanding the genetic danger of disease.


Aakrosh Ratan, PhD, was part of a team of scientists who developed the new therapeutic approach through the National Heart, Lung, and Blood Institute.

Giraffe will help scientists better understand genetic variation in different populations. Instead of being a single reference genome, it will employ 5,000 people from multiple backgrounds. That will help scientists better understand key patterns in a global population approaching 8 billion, but it will also reduce unintentional biases in genomic data widely used by doctors and scientists.

When scientists are examining large, more complex sections of our genetic code, Giraffe will make it much easier for scientists to analyze these large structural variations as the swathes are known. That will help scientists understand what the structural variations do and their role in diseases. That will, ultimately, help guide the development of new therapies.

Giraffe has had a tremendous impact on the discovery of structural variations, especially large and complicated regions in the human genome that could not be resolved by standard, short-read sequencing. This is critical as structural variation has been shown to be significant for the risk of autism and other neuropsychiatric disorders, as well as many cancers. Giraffe is particularly effective in detecting structural variation across diverse ethnic groups.

Rich added that Giraffe has been demonstrated to reduce bias, improve the speed of analysis, and improve the discovery of large blocks of variation in the human genome across ancestries. This single software tool enhances inclusiveness, thus reducing health disparities in genomic studies by allowing the use of a more global pangenome reference.

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