New open source Mendel,MD software could help doctors diagnose genetic diseases

An open-source software tool called Mendel,MD. Doctors analyze patients" genetic data in order to diagnose diseases caused by mutations. Developed by Raony Cardenas and colleagues at Universidade Federal de Minas Gerais, Brazil.

Diseases caused by genetic mutations can be challenging to diagnose. Sequencing of a patient"s entire genome or exome. The part of the genome used to build proteins now offers an effective strategy to pinpoint culprit mutations. Make an accurate diagnosis. However, the software needed to analyze these sequences is often costly or too complex for many doctors to use.

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Usage of Mendel,MD

To address these issues, Cardenas" team developed Mendel,MD specifically for easy use by physicians free of charge. Users upload patient"s whole genome or exome sequence via web-based interface, and the sequence analyzed and filtered using various computational tools and databases of disease-causing mutations. The list of candidate mutations clinically investigated to arrive a final diagnosis.

The researchers validated Mendel,MD using previously-published clinical cases. They also had it tested by researchers and students at their own university, as well as at GENE Núcleo de Genética Médica, Brazil, and the Children"s University Hospital in Dublin, Ireland. The results suggest that Mendel,MD is reliable, simple, and efficient in identifying disease-causing mutations in patients.

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Moreover, designed the software simple and intuitive and used directly by physicians, even those are not proficient in bioinformatics," says study co-author Sérgio Pena. "We expect Mendel,MD adopted in other research centers and laboratories around the world."