Long-read sequencing (LRS) has matured, and the dramatically increased accuracy, ever-increasing throughput, and access now allow new and advanced studies even at scale. This Special Issue of Genome Research on “Long-read DNA and RNA Sequencing Applications in Biology and Medicine” garnered a record number of submissions, reflecting both the intense and broad interest in the technologies and the next round of revolutionary genomic science enabled by them. This interest is rooted in that all long-read technologies combine the core benefit of utilizing much longer DNA molecules (from tens of kb to Mb-scale), which offers several benefits common to most long-read technologies including: improved sensitivity to structural variants (SVs), detection of (complex) cytogenetic aberrations; the ability to assemble and phase genomes, with the potential to move away from variants to alleles/haplotypes; sensitivity for repeat expansion/contraction detection; and access to the “dark genome,” for example, repeat-rich and GC-rich areas of the human genome, even including segmental duplications (SegDups) or other sequence homologies.

中文翻译：

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革新基因组学和医学 — 一次一个长分子


长读长测序 （LRS） 已经成熟，显著提高的准确性、不断提高的通量和可及性现在允许进行新的和高级的研究，甚至可以进行大规模的研究。本期关于“生物学和医学中的长读长 DNA 和 RNA 测序应用”的基因组研究特刊获得了创纪录的投稿数量，反映了对这些技术以及由它们实现的下一轮革命性基因组科学的强烈和广泛兴趣。这种兴趣植根于所有长读长技术都结合了使用更长的 DNA 分子（从几十 kb 到 Mb 级）的核心优势，这提供了大多数长读长技术共有的几个优势，包括：提高对结构变异 （SV） 的敏感性，检测（复杂的）细胞遗传学畸变;组装和定相基因组的能力，有可能从变异转移到等位基因/单倍型;重复扩增/收缩检测的灵敏度;以及访问“暗基因组”，例如，人类基因组中富含重复和 GC 丰富的区域，甚至包括节段重复 （SegDups） 或其他序列同源性。