Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

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 ...

Clinicians' ability to diagnose and treat chronic diseases is limited by scientific uncertainty around factors contributing to disease risk. A study published September 2 nd in the open-access journal ...

A new genome-wide study uncovers evidence of the first three-way relationships between human genetic variation, variation in the fungal component of the human microbiome - known as the mycobiome - and ...

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 ...

Over the last 20 years, genetic research has changed dramatically. An explosion of genomic data has reshaped how we understand our past. Scientists have collected genetic material from hundreds of ...

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 ...

Veronica Paulus is a former STAT intern supported by the Harvard University Institute of Politics. Complex regions of the human genome remained uncharted, even after researchers sequenced the genome ...