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Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa
BACKGROUND: Next generation sequencing (NGS) offers a rapid and comprehensive method of screening for mutations associated with retinitis pigmentosa and related disorders. However, certain sequence alterations such as large insertions or deletions may remain undetected using standard NGS pipelines....
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| Wydane w: | PLoS One |
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| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Public Library of Science
2015
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4641726/ https://ncbi.nlm.nih.gov/pubmed/26558903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0142614 |
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