Personalised analytics for rare disease diagnostics
Genome sequencing is being widely adopted for diagnosis of genetic diseases, but identifying the causal variants remains challenging. Here, the authors introduce a tool that incorporates tissue-specific gene expression data into predicting variant pathogenicity, improving accuracy.
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | article |
| Language: | EN |
| Published: |
Nature Portfolio
2019
|
| Subjects: | |
| Online Access: | https://doaj.org/article/63acb38dd4c14d16b5884b95ac16f5b9 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|