Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations.
Nat Rev Genet
; 19(5): 269-285, 2018 05.
Article
en En
| MEDLINE
| ID: mdl-29576615
ABSTRACT
Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population of cells. Although next-generation sequencing (NGS) technologies have revolutionized the study of genomic variation between species and individual organisms, most have limited ability to accurately detect and quantify rare variants among the different genome copies in heterogeneous mixtures of cells or molecules. We describe the technical challenges in characterizing subclonal variants using conventional NGS protocols and the recent development of error correction strategies, both computational and experimental, including consensus sequencing of single DNA molecules. We also highlight major applications for low-frequency mutation detection in science and medicine, describe emerging methodologies and provide our vision for the future of DNA sequencing.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Genómica
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Secuenciación de Nucleótidos de Alto Rendimiento
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Mutación
Límite:
Humans
Idioma:
En
Revista:
Nat Rev Genet
Asunto de la revista:
GENETICA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos