A new analysis explores the genetic liability of psychiatric disorders using polygenic scores and recurrent copy number variants.

However, ES is not the first choice for detecting copy number variants (CNVs), which are typically deletions or duplications of DNA segments. CNVs cause a significant proportion of genetic disorders.

Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, it’s usually to try to identify a disease-causing gene to help guide ...

While non-invasive prenatal testing (NIPT) has revolutionised prenatal diagnostics by allowing the detection of a number of ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

GWAS power plots. Power plots of current and future GWAS estimated using MiXeR (21), displaying the estimated proportion of SNP-heritability explained by genome-wide significant SNPs as a function of ...