What is it about?
Rare genetic variants modulate the risk of developing human complex diseases. They can be accessed across the whole genome using sequencing technologies, but need specific statistical methods to be analyzed. These methods are hard to apply outside of coding genes, resulting in only a small proportion of rare variants being investigated in most studies. We propose a new statistical framework to analyze rare variants in the whole genome.
Featured Image
Why is it important?
While rare variant information can be obtained for the whole genome, a large proportion, corresponding to the non-coding genome, is often left out due to challenges in statistical analysis. We propose a new statistical framework that answers this issue by integrating rare variants from the whole genome using their predicted effects and genomic context. This approach will enable to take most benefits of whole-genome sequencing data in unravelling the genetic basis of human complex traits which is currently not fully understood.
Perspectives
The development of various technologies and their associated decreasing cost enable to access a huge amount of data. I am convinced that the main challenge now is to know how to learn from these data in order to get useful and relevant information to better understand the biological bases of human complex traits. I hope this study and the associated tool we provide will help researchers in that direction.
Ozvan Bocher
Hermann von Helmholtz-Gemeinschaft Deutscher Forschungszentren
Read the Original
This page is a summary of: Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score, PLoS Genetics, September 2022, PLOS,
DOI: 10.1371/journal.pgen.1009923.
You can read the full text:
Contributors
The following have contributed to this page
