Comprehensive de novo mutation discovery with HiFi long-read sequencing

BACKGROUND: Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indels < 20 bp) more challenging. The introduction of PacBio HiFi sequencing make...

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Detalles Bibliográficos
Autores principales: Kucuk, Erdi, van der Sanden, Bart P. G. H., O’Gorman, Luke, Kwint, Michael, Derks, Ronny, Wenger, Aaron M., Lambert, Christine, Chakraborty, Shreyasee, Baybayan, Primo, Rowell, William J., Brunner, Han G., Vissers, Lisenka E. L. M., Hoischen, Alexander, Gilissen, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169305/
https://www.ncbi.nlm.nih.gov/pubmed/37158973
http://dx.doi.org/10.1186/s13073-023-01183-6

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