Proceedings of the National Academy of Sciences · 2018 · 272 citations · 28 references
Life SciencesBiologyMolecular BiologyGenomicsSequence AnalysisTranscriptomicsAlternative SplicingNext-generation SequencingRna Sequencing AnalysisSingle-cell Rna Sequencing AnalysisSingle-cell TranscriptomicsAccuracyFull-length Cdna SequencingFull-length Isoform SequencingFull-length Transcript SequencingLong-read SequencingNanopore SequencingRolling Circle AmplificationShort-read Sequencing
High-throughput short-read sequencing has revolutionized how transcriptomes are quantified and annotated. However, while Illumina short-read sequencers can be used to analyze entire transcriptomes down to the level of individual splicing events with great accuracy, they fall short of analyzing how these individual events are combined into complete RNA transcript isoforms. Because of this shortfall, long-distance information is required to complement short-read sequencing to analyze transcriptomes on the level of full-length RNA transcript isoforms. While long-read sequencing technology can provide this long-distance information, there are issues with both Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT) long-read sequencing technologies that prevent their widespread adoption. Briefly, PacBio sequencers produce low numbers of reads with high accuracy, while ONT sequencers produce higher numbers of reads with lower accuracy. Here, we introduce and validate a long-read ONT-based sequencing method. At the same cost, our Rolling Circle Amplification to Concatemeric Consensus (R2C2) method generates more accurate reads of full-length RNA transcript isoforms than any other available long-read sequencing method. These reads can then be used to generate isoform-level transcriptomes for both genome annotation and differential expression analysis in bulk or single-cell samples.
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Minimap2: pairwise alignment for nucleotide sequences
Heng Li · Bioinformatics · 2018 · 16.8K citations · Full text
Mapping and quantifying mammalian transcriptomes by RNA-Seq
A Mortazavi, Brian A. Williams, Kenneth McCue et al. · Nature Methods · 2008 · 14.3K citations
Enzymatic assembly of DNA molecules up to several hundred kilobases
Daniel G. Gibson, Lei Young, Ray-Yuan Chuang et al. · Nature Methods · 2009 · 10.9K citations
<tt>BLAT</tt>—The <tt>BLAST</tt>-Like Alignment Tool
W. James Kent · Genome Research · 2002 · 8.4K citations · Full text