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Title
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Towards population-scale long-read sequencing
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Nature reviews genetics. - London
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Publication
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Berlin
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Nature research
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2021
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ISSN
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1471-0056
1471-0056
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DOI
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10.1038/S41576-021-00367-3
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Volume/pages
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22
(2021)
, p. 572-587
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ISI
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000655922600001
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Pubmed ID
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34050336
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Full text (Publisher's DOI)
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Full text (open access)
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