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Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to detect pathogenic repeat expansions genome-wide. Here, we report robust detection of human repeat expansions from careful alignments of long but error-prone (PacBio and nanopore) reads to a reference genome. O...
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| Udgivet i: | Genome Biol |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6425644/ https://ncbi.nlm.nih.gov/pubmed/30890163 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-019-1667-6 |
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