Combining genetic tests may better define complex SMN gene changes in SMA, including SMN2 copy numbers and hybrid structures.

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.

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 ...

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 ...

Population-based pathogenic variant testing identified breast cancer susceptibility gene carriers who would often be missed ...

Led by University of Tartu researchers, the largest and most comprehensive study to date has been completed on how genetic differences between individuals influence metabolism. Published in Nature, ...