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Towards a better understanding of the low recall of insertion variants with short-read based variant callers
BACKGROUND: Since 2009, numerous tools have been developed to detect structural variants using short read technologies. Insertions >50 bp are one of the hardest type to discover and are drastically underrepresented in gold standard variant callsets. The advent of long read technologies has comple...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7640490/ https://www.ncbi.nlm.nih.gov/pubmed/33148192 http://dx.doi.org/10.1186/s12864-020-07125-5 |