載入...
Mapping RNA splicing variations in clinically-accessible and non-accessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
PURPOSE: RNA-seq is a promising approach to improve diagnoses by detecting pathogenic aberrations in RNA splicing that are missed by DNA sequencing. RNA-seq is typically performed on clinically-accessible tissues (CATs) from blood and skin. RNA tissue-specificity makes it difficult to identify aberr...
Na minha lista:
| 發表在: | Genet Med |
|---|---|
| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2020
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7335339/ https://ncbi.nlm.nih.gov/pubmed/32225167 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0780-y |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|