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Evaluating nanopore sequencing data processing pipelines for structural variation identification
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 accurate SV ide...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857234/ https://www.ncbi.nlm.nih.gov/pubmed/31727126 http://dx.doi.org/10.1186/s13059-019-1858-1 |