Long-read sequencing has transformed genetics and genomics. With this technology, genomic studies can illuminate previously inaccessible regions, such as repetitive DNA and large structural variants; transcriptomic studies can resolve full-length transcripts and complex isoforms; and epigenomic studies can gain additional information from directly sequencing the DNA or RNA molecule. Nature Reviews Genetics presents an online collection that showcases recent technological developments and the biological insights that have followed.

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Long-read sequencing

摘要

Long-read sequencing has transformed genetics and genomics. With this technology, genomic studies can illuminate previously inaccessible regions, such as repetitive DNA and large structural variants; transcriptomic studies can resolve full-length transcripts and complex isoforms; and epigenomic studies can gain additional information from directly sequencing the DNA or RNA molecule. Nature Reviews Genetics presents an online collection that showcases recent technological developments and the biological insights that have followed.