Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2022-04-01
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Series: | Genome Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13073-022-01019-9 |