Myopathology in the times of modern genetics

We describe filtering techniques and free online bioinformatic tools that can help physicians and researchers establish a molecular diagnosis from NGS data. The ethical issues raised by NGS data are outlined. We provide specific examples that illustrate how traditional and contemporary approaches integrate to solve a difficult diagnosis or to correct initially wrong assumptions based on data generated from one method alone.
Source: Neuropathology and Applied Neurobiology - Category: Neurology Authors: Tags: Review Source Type: research