Cargando…
Converting single nucleotide variants between genome builds: from cautionary tale to solution
Next-generation sequencing studies are dependent on a high-quality reference genome for single nucleotide variant (SNV) calling. Although the two most recent builds of the human genome are widely used, position information is typically not directly comparable between them. Re-alignment gives the mos...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8425424/ https://www.ncbi.nlm.nih.gov/pubmed/33822888 http://dx.doi.org/10.1093/bib/bbab069 |