New Approaches to Polygenic Risk for Complex Disease

03/2021

Two recent studies used data from the 1000 Genomes Project to study polygenic risk scores, which use genetic information from many genes across the genome to predict inherited risk of developing common, complex diseases. 

In one study, published in the journal Genome Research, scientists used samples from the NHGRI Sample Repository for Human Genetic Research to develop a new approach for measuring inherited disease for coronary artery disease and breast cancer. 

The second study, published in The American Journal of Cardiology, used data from the 1000 Genomes Project to help develop methods to test the accuracy of inherited risk assessment for atherosclerotic cardiovascular disease in diverse groups of people.

More information on the first study can be found in Genome Research. The complete research article, “Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays” by Li et al., was published in Genome Research.

More information on the second study can be found in The American Journal of Cardiology.  The complete research article, “Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries” by Weale et al., was published in The American Journal of Cardiology.


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