Improving genetic diagnosis of Mendelian disease with RNA sequencing: a narrative review
Abstract. Targeted sequencing and whole exome sequencing are the most common approaches used to detect causative variants in Mendelian diseases; however, using DNA-based sequencing techniques, the current molecular diagnostic yield is at best 50%. In recent years, RNA sequencing has been shown to be...
| Published in: | Journal of Bio-X Research |
|---|---|
| Main Authors: | , , |
| Format: | Article |
| Language: | English |
| Published: |
American Association for the Advancement of Science (AAAS)
2022-03-01
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| Online Access: | http://journals.lww.com/10.1097/JBR.0000000000000100 |