and has revealed the causes of many genetic diseases. But there are inherent limitations to this method. For example, it cannot handle highly repetitive sequences and some kinds of mutations, like ...
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.
The gene responsible for this disease is in a particularly challenging region of the genome -- it can't be characterized with short read sequencing technology, and the current clinical test is ...