The human genome provides a precise, biological blueprint of life. To implement this blueprint correctly, the genome must be read with great precision, but it's impossible for this process to be completely error-free. Mistakes during transcription - random errors in how DNA sequences are copied for a gene to be expressed - can happen any time in any number of ways.
A team led by CHOP's Marni J. Falk, MD, has expanded next-generation gene tools designed to sequence nuclear DNA to analyze a separate source of DNA - that found within mitochondria. Mitochondria are key suppliers of the energy needed for the multiple functions of our cells.