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...

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Detalles Bibliográficos
Autores principales: Reis, Andre L. M., Deveson, Ira W., Madala, Bindu Swapna, Wong, Ted, Barker, Chris, Xu, Joshua, Lennon, Niall, Tong, Weida, Mercer, Tim R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
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

Internet

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

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