For the first time in humans, researchers have discovered a large chromosomal rearrangement that bears the mark of natural selection, they report in the February issue of Nature Genetics. The ...

Highly challenging to sequence and long overlooked, the human Y chromosome's contributions to health and disease remain largely unknown. A new paper that presents, for the first time, the complete ...

Robertsonian chromosomes (ROB) are a type of structurally variant chromosome that is created when two chromosomes fuse together to form an unusual bond. Found commonly in nature, these chromosomes are ...

The human genetic blueprint is deceptively simple. Our genes are tightly wound into 46 X-shaped structures called chromosomes. Crafted by evolution, they carry DNA and replicate when cells divide, ...