@article {889,
	title = {Towards population-scale long-read sequencing.},
	journal = {Nat Rev Genet},
	year = {2021},
	month = {2021 May 28},
	abstract = {<p>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.</p>},
	issn = {1471-0064},
	doi = {10.1038/s41576-021-00367-3},
	author = {De Coster, Wouter and Weissensteiner, Matthias H and Sedlazeck, Fritz J}
}
