Genetic diagnosis of Mendelian disorders via RNA sequencing
Genome sequencing alone fails to provide a genetic diagnosis for many Mendelian disorder patients. Here, the authors utilize RNA sequencing to complement genotyping of patients with a rare mitochondrial disease by detecting aberrant RNA expression, splicing and allele-specific expression.
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2017-06-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/ncomms15824 |