Limitations in DNA sequencing technology make it difficult to detect some major mutations often linked to cancer, such as the loss or duplication of parts of chromosomes. Now, methods developed by ...

In their paper, the researchers detail the first, to their knowledge, case of a potential gain of function phenotype for IL-33 in a human. Researchers are sharing their learnings from a patient with a ...

Scientists have proposed an addition to the theory of evolution that can explain how and why genes move on chromosomes. The hypothesis is called the SNAP Hypothesis. Scientists at Uppsala University ...

Healthy cells work hard to maintain the integrity of our DNA, but occasionally, a chromosome can get separated from the others and break apart during cell division. The tiny fragments of DNA then get ...

Translocations, in genetics, happen when chromosomes break and the pieces attach to other chromosomes. This mixing of genetic material has important results. The resultant chromosomes are lacking in ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

A woman developed 12 tumors — seven benign and five cancerous — before her 40th birthday. Medical researchers recently discovered why she's so prone to the abnormal growths: She carries a set of ...