Machine learning in genomics
This Nature Reviews Genetics collection brings together Reviews by key opinion leaders that explain cutting-edge machine learning methodology and how these tools are being applied in genomics.
This Nature Reviews Genetics collection brings together Reviews by key opinion leaders that explain cutting-edge machine learning methodology and how these tools are being applied in genomics.
With SNP-based genome-wide association studies (GWAS) nearing signal saturation, exploring copy number variation (CNV) can offer new insights into the genetic architecture of complex traits. The authors review recent advances that enable large-scale CNV-based GWAS and their likely impact on downstream analyses, such as polygenic risk scoring and drug target identification.