Cargando…
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...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2017
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591230/ https://www.ncbi.nlm.nih.gov/pubmed/28887485 http://dx.doi.org/10.1038/s41598-017-10826-9 |