Applying genomic and transcriptomic advances to mitochondrial medicine

Nature Reviews Neurology, Published online: 23 February 2021; doi:10.1038/s41582-021-00455-2In this Review, the authors discuss the unique challenges involved in performing genetic testing for primary mitochondrial diseases and consider the value of advanced approaches such as long-read sequencing, RNA sequencing and the interpretation of transfer RNA variants.

Source: Nature Reviews Neurology - February 23, 2021 Category: Neurology Authors: William L. Macken Jana Vandrovcova Michael G. Hanna Robert D. S. Pitceathly Source Type: research