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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...
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| Published in: | Genet Med |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
2020
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| Subjects: | |
| Online Access: | 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 |
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