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Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome
BACKGROUND: Next-generation sequencing (NGS) can identify mutations in the human genome that cause disease and has been widely adopted in clinical diagnosis. However, the human genome contains many polymorphic, low-complexity, and repetitive regions that are difficult to sequence and analyze. Despit...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753822/ https://www.ncbi.nlm.nih.gov/pubmed/35022065 http://dx.doi.org/10.1186/s13059-021-02579-6 |