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Myopathology in the times of modern genetics

Item Type:Review
Title:Myopathology in the times of modern genetics
Creators Name:Schuelke, M. and Oien, N.C. and Oldfors, A.
Abstract:The advent of Next Generation Sequencing (NGS) technologies has accelerated the rate of novel disease gene discovery. Analysis of the large datasets generated by whole exome sequencing, whole genome sequencing, and other NGS approaches poses a challenge to physicians and pathologists searching for disease causing variants amongst the 50,000-3 million polymorphisms typically seen in these datasets. This review describes strategies that successfully combine classical neuropathological investigation (e.g. histology, immunostaining, and electron microscopy) with modern NGS technologies to pinpoint the underlying genetic cause of a disease. 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.
Keywords:Applied Bioinformatics, Disease Classification, Genetic Variant Interpretation, Muscle, Next Generation Sequencing, Rare Disease
Source:Neuropathology and Applied Neurobiology
Page Range:44-61
Date:February 2017
Official Publication:https://doi.org/10.1111/nan.12374
PubMed:View item in PubMed

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