Evaluating nanopore sequencing data processing pipelines for structural variation identification

Evaluating nanopore sequencing data processing pipelines for structural variation identification

Abstract Background Structural variations (SVs) account for about 1% of the differences among human genomes and play a significant role in phenotypic variation and disease susceptibility. The emerging nanopore sequencing technology can generate long sequence reads and can potentially provide accurat...

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Detalles Bibliográficos
Autores principales: Anbo Zhou, Timothy Lin, Jinchuan Xing
Formato: Artículo
Lenguaje:English
Publicado: BMC 2019-11-01
Colección:Genome Biology
Materias:
Nanopore sequencing
Single-molecule sequencing
Structural variation
Pipeline evaluation
Acceso en línea:http://link.springer.com/article/10.1186/s13059-019-1858-1

Internet

http://link.springer.com/article/10.1186/s13059-019-1858-1

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