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Accurate detection of de novo and transmitted indels within exome-capture data using micro-assembly
We present an open-source algorithm, Scalpel, which combines mapping and assembly for sensitive and specific discovery of indels in exome-capture data. A detailed repeat analysis coupled with a self-tuning k-mer strategy allows Scalpel to outperform other state-of-the-art approaches for indel discov...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180789/ https://www.ncbi.nlm.nih.gov/pubmed/25128977 http://dx.doi.org/10.1038/nmeth.3069 |