Advances in precision medicine are determined, in large part, by the ability to more carefully and completely analyze and understand the genome. This requires new developments in how we look at DNA that go way beyond sequencing data.
The new developments in this space promise limitless creativity and versatility, from methods that detect DNA in such small amounts that rare variants can be found, to tools that uncover the 3D architecture of the genome to facilitate further insights into structural variation. Such advances could dramatically improve patient outcomes by allowing clinicians to follow a tumor’s progression through a simple blood draw, or discover a bacterial infection before the patient even feels sick. The work at the forefront of precision medicine is original, exciting, transformative, and moving at breakneck speed.