When X-linked genes evade silencing on the “inactive” chromosome in XX cells, some protect women from diseases such as cancer, but others seem to promote conditions such as autoimmunity.
The University of Washington researcher leveraged data from the Human Genome Project to identify genes underlying various health conditions and advance precision medicine.
Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects.