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 ...

This activity was supported by Contract No. HHSN263201800029I / Order No. 75N98019F00852 from the U.S. National Institutes of Health, Grant No. 2019 HTH 009 from the Rockefeller Foundation, and Grant ...

Population stratification can confound genetic association studies and often persists despite adjustment using principal components of common variants. Demographic history and rare variants can also ...

A research team led by Zhen-Xing Endowed Professor Jian Yang at the School of Life Sciences, Westlake University, has developed a pangenome-informed genome assembly (PIGA) method. By combining a ...

The human genome has to be carefully organized so it will fit inside of the nuclei of cells, while also remaining accessible to the cellular machinery that works to express the right genes at the ...

DNA doesn’t just sit still inside our cells — it folds, loops, and rearranges in ways that shape how genes behave. Researchers have now mapped this hidden architecture in unprecedented detail, showing ...

Smell is one of the primary senses in humans. Among the human senses, olfaction is unique due to its direct neuronal connection to the amygdala, a structure of the limbic system taking part in ...

Today, genomics is saving countless lives and even entire species, thanks in large part to a commitment to collaborative and open science that the Human Genome Project helped promote. Twenty-five ...

Artificial intelligence has gotten a bad reputation lately, and often for good reason. But a team of scientists at Google’s DeepMind now claims to have found a revolutionary use case for AI: helping ...

Although there are striking differences between the cells that make up your eyes, kidneys, brain and toes, the DNA blueprint for these cells is essentially the same. Where do those differences come ...