Researchers develop a simple and intuitive open-source software tool to analyse patients’ genetic data


Brasília: Keeping physicians in mind, researchers have developed a simple and intuitive open-source software tool that could help doctors analyse patients’ genetic data in order to diagnose diseases caused by mutations.

Developed by Raony Cardenas and colleagues at Universidade Federal de Minas Gerais in Brazil, the description of the tool called “Mendel,MD” was presented in the journal PLOS Computational Biology.

“We designed the software to be simple and intuitive enough to be used directly by physicians, even those who are not proficient in bioinformatics,” said study co-author Sérgio Pena.

The software needed to analyse these sequences caused by the changing of the structure of a gene is often costly or too complex for many doctors to use.

Cardenas’ team developed Mendel,MD specifically for easy use by physicians and free of charge.

The researchers had the tool tested by researchers and students at their own university, as well as at GENE – Núcleo de Genética Médica in Brazil and the Children’s University Hospital in Dublin, Ireland.

As the results suggested that Mendel,MD is reliable, simple and efficient in identifying disease-causing mutations in patients, Pena and the team “expect Mendel,MD to be adopted in other research centres and laboratories around the world”.