Long-read human genome sequencing and its applications

By Glennis A. Logsdon, Mitchell R. Vollger, Evan E. Eichler. Nature reviews genetics, 2020

944 citations recorded by the source corpus.

Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven their ability to resolve some of the most challenging regions of the human genome, detect previously inaccessible structural variants and generate some of the first telomere-to-telomere assemblies of whole chromosomes. Long-read sequencing technologies will soon permit the routine assembly of diploid genomes, which will revolutionize genomics by revealing the full spectrum of human genetic variation, resolving some of the missing heritability and leading to the discovery of novel mechanisms of disease. Long-read sequencing is becoming more accessible and more accurate. In this Review, Logsdon et al. discuss the currently available platforms, how the technologies are being applied to assemble and phase human genomes, and their impact on improving our understanding of human genetic variation.

Subfields: Molecular Biology, Plant Science

View Paper: https://www.semanticscholar.org/paper/059894f295ac0af29528ae98b0013afde14b0a3c

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Citations in the corpus

Haplotype-resolved assembly of diploid genomes without parental data (2022, background): “Statistical physicists often optimize an equation like equations (1) and (2) with stochastic algorithms.”
Next-Generation Sequencing Technology: Current Trends and Advancements (2023, background): “such as whole-genome sequencing, whole-exome sequencing, and targeted sequencing.”
Automated assembly scaffolding elevates a new tomato system for high-throughput genome editing (2021, positive): “13-r308, −l0) and we assembled ONT reads at least 30 kbp long (a total of 28,595,007,408 bp) with Flye (v2.”
Automated assembly scaffolding using RagTag elevates a new tomato system for high-throughput genome editing (2022, neutral): “Genome assemblies are typically built from PacBio High Fidelity (HiFi) and/or Oxford Nanopore long-reads (ONT) [9].”