Structural variants (SVs) are alterations in the DNA sequence that involve large-scale changes, typically longer than 50 base pairs. Advances in long-read sequencing have significantly increased ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

A new study, published in Nature Genetics, created the largest genetic map of human metabolism, revealing new insights into the role of metabolites in health and disease and creating a blueprint for ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought. The ...

The contribution of genetics to the variability in people’s metabolism has remained largely unknown. This is, in part, because genetic studies of human metabolism have been limited in scale and ...

A new study, published today in Nature Genetics, created the largest genetic map of human metabolism, revealing new insights on the role of metabolites in health and disease and creating a blueprint ...

Jennifer (Piper) Below, PhD, and colleagues conducted the largest genetic analysis of stuttering to date, demonstrating a clear genetic basis for the speech disorder and highlighting neurological ...

Researchers led by Queen Mary University of London and the Berlin Institute of Health at Charité have analysed blood protein ...

Genetic results from the Deciphering Developmental Disorders (DDD) study have enabled thousands of children with severe developmental disorders to receive better treatment. Thousands of children with ...