Nanopore sequencing technology, bioinformatics and applications.
Yunhao WangYue ZhaoAudrey BollasYuru WangKin Fai AuPublished in: Nature biotechnology (2021)
Rapid advances in nanopore technologies for sequencing single long DNA and RNA molecules have led to substantial improvements in accuracy, read length and throughput. These breakthroughs have required extensive development of experimental and bioinformatics methods to fully exploit nanopore long reads for investigations of genomes, transcriptomes, epigenomes and epitranscriptomes. Nanopore sequencing is being applied in genome assembly, full-length transcript detection and base modification detection and in more specialized areas, such as rapid clinical diagnoses and outbreak surveillance. Many opportunities remain for improving data quality and analytical approaches through the development of new nanopores, base-calling methods and experimental protocols tailored to particular applications.
Keyphrases
- single molecule
- loop mediated isothermal amplification
- single cell
- rna seq
- solid state
- sensitive detection
- label free
- public health
- real time pcr
- palliative care
- electronic health record
- big data
- gene expression
- liquid chromatography
- nucleic acid
- machine learning
- smoking cessation
- circulating tumor
- quantum dots
- circulating tumor cells