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Direct comparison of performance of single nucleotide variant calling in human genome with alignment-based and assembly-based approaches
Complementary to reference-based variant detection, recent studies revealed that many novel variants could be detected with de novo assembled genomes. To evaluate the effect of reads coverage and the accuracy of assembly-based variant calling, we simulated short reads containing more than 3 million...
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| Publicat a: | Sci Rep |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5591230/ https://ncbi.nlm.nih.gov/pubmed/28887485 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-10826-9 |
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