New tool created for genetic mutation identification

Scientists at the Johns Hopkins University School of Medicine have created a new virtual tool that could greatly facilitate the process of identifying genetic mutations.

Pyromaker is a free web-based application that is able to create simulated pyrograms that incorporate user-inputted data on the percentage of tumour cells, the wild-type sequence and dispensation order, as well as any number of mutant sequences.

Typically, pyrosequencing and Sanger sequencing of real DNA samples – a key process in the diagnosis and treatment of cancer – can throw up complicated data that can be nearly impossible to interpret.

However, this new method can create virtual pyrograms that are quantitatively identical when tested for mutations, which means simulated DNA samples can be tested far more rapidly than would be typical when performed practically.

Dr James Eshleman, professor of pathology and oncology and associate director at the university's molecular diagnostics laboratory, said: "User-directed hypothesis testing allows for generating virtual traces that can be compared to the actual data to clarify ambiguous results from pyrosequencing and the Sanger method."

In December 2011, a study from the University of Notre Dame revealed that a new technique called laser transmission spectroscopy could be set to bring a new level of precision and speed to DNA detection techniques.