Genome-wide association studies (GWAS) focusing on common single nucleotide polymorphism (SNPs) have advanced our understanding of the genetic causes of many traits and diseases. However, for some conditions, this method is reaching its limits.

To better understand the genetic basis of diseases, researchers are turning to other types of genetic variation, such as copy number variation (CNV) – changes in the number of copies of a particular region of DNA.

In this Nature Genetics review, researchers discuss:
➡️ new technologies and computational tools that support the study of CNVs across the genome at scale
➡️ limitations in resource infrastructure holding back the wider uptake of CNV-GWAS
➡️ guidelines and standards needed for CNV-GWAS

This shift opens opportunities to identify new genetic factors behind diseases, improve genetic disease risk modelling, and inform downstream applications such as drug discovery.

Find out more and read the full review here.
https://doi.org/10.1038/s41576-024-00778-y

(written by Victoria Hatch)