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Improving bioinformatic pipelines for exome variant calling
Exome sequencing analysis is a cost-effective approach for identifying variants in coding regions. However, recognizing the relevant single nucleotide variants, small insertions and deletions remains a challenge for many researchers and diagnostic laboratories typically do not have access to the bio...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334555/ https://www.ncbi.nlm.nih.gov/pubmed/22289516 http://dx.doi.org/10.1186/gm306 |