An open-source software tool called Mendel,MD could help 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, the tool is presented in a new study in PLOS Computational Biology.
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 protein – now offers an effective strategy to pinpoint culprit mutations and make an accurate diagnosis.
