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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

RNA Modification in the Immune System

open access: yesAnnual Review of Immunology, 2023
Characterization of RNA modifications has identified their distribution features and molecular functions. Dynamic changes in RNA modification on various forms of RNA are essential for the development and function of the immune system. In this review, we discuss the value of innovative RNA modification profiling technologies to uncover the function of ...
Dali Han, Meng Michelle Xu
exaly   +3 more sources
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Quantification of RNA modifications

Nature Reviews Genetics, 2021
A new report introduces xPore, a computational method and statistical framework for the analysis of differential RNA modifications from nanopore direct RNA sequencing data.
Linda Koch
exaly   +3 more sources

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