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REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data
MOTIVATION: Repeat expansions are an important class of genetic variation in neurological diseases. However, the identification of novel repeat expansions using conventional sequencing methods is a challenge due to their typical lengths relative to short sequence reads and difficulty in producing ac...
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| Veröffentlicht in: | Bioinformatics |
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| 1. Verfasser: | |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Oxford University Press
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8098020/ https://ncbi.nlm.nih.gov/pubmed/32845284 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa753 |
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