Towards population-scale long-read sequencing.

TitleTowards population-scale long-read sequencing.
Publication TypeJournal Article
Year of Publication2021
AuthorsDe Coster, W, Weissensteiner, MH, Sedlazeck, FJ
JournalNat Rev Genet
Date Published2021 May 28

Long-read sequencing technologies have now reached a level of accuracy and yield that allows their application to variant detection at a scale of tens to thousands of samples. Concomitant with the development of new computational tools, the first population-scale studies involving long-read sequencing have emerged over the past 2 years and, given the continuous advancement of the field, many more are likely to follow. In this Review, we survey recent developments in population-scale long-read sequencing, highlight potential challenges of a scaled-up approach and provide guidance regarding experimental design. We provide an overview of current long-read sequencing platforms, variant calling methodologies and approaches for de novo assemblies and reference-based mapping approaches. Furthermore, we summarize strategies for variant validation, genotyping and predicting functional impact and emphasize challenges remaining in achieving long-read sequencing at a population scale.

Alternate JournalNat Rev Genet
PubMed ID34050336
PubMed Central IDPMC8161719
Grant ListUM1 HG008898 / HG / NHGRI NIH HHS / United States