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Lutgen, Dave, Ritter, Raphael, Olsen, Remi-André, Schielzeth, Holger, Gruselius, Joel, Ewels, Phil, García, Jesús T, Shirihai, Hadoram, Schweizer, Manuel, Suh, Alexander 
ORCID: https://orcid.org/0000-0002-8979-9992 and Burri, Reto
(2020)
Linked-read sequencing enables haplotype-resolved resequencing at population scale.
Molecular Ecology Resources, 20 (5).
pp. 1311-1322.
ISSN 1755-098X
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Abstract
The feasibility to sequence entire genomes of virtually any organism provides unprecedented insights into the evolutionary history of populations and species. Nevertheless, many population genomic inferences - including the quantification and dating of admixture, introgression and demographic events, and inference of selective sweeps - are still limited by the lack of high-quality haplotype information. The newest generation of sequencing technology now promises significant progress. To establish the feasibility of haplotype-resolved genome resequencing at population scale, we investigated properties of linked-read sequencing data of songbirds of the genus Oenanthe across a range of sequencing depths. Our results based on the comparison of downsampled (25x, 20x, 15x, 10x, 7x, and 5x) with high-coverage data (46-68x) of seven bird genomes mapped to a reference suggest that phasing contiguities and accuracies adequate for most population genomic analyses can be reached already with moderate sequencing effort. At 15x coverage, phased haplotypes span about 90% of the genome assembly, with 50 and 90 percent of phased sequences located in phase blocks longer than 1.25-4.6 Mb (N50) and 0.27-0.72 Mb (N90). Phasing accuracy reaches beyond 99% starting from 15x coverage. Higher coverages yielded higher contiguities (up to about 7 Mb/1Mb (N50/N90) at 25x coverage), but only marginally improved phasing accuracy. Phase block contiguity improved with input DNA molecule length; thus, higher-quality DNA may help keeping sequencing costs at bay. In conclusion, even for organisms with gigabase-sized genomes like birds, linked-read sequencing at moderate depth opens an affordable avenue towards haplotype-resolved genome resequencing at population scale.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | admixture,demography,introgression,phasing,population genomics,selective sweeps,biotechnology,ecology, evolution, behavior and systematics,genetics ,/dk/atira/pure/subjectarea/asjc/1300/1305 |
| Faculty \ School: | Faculty of Science > School of Biological Sciences |
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 26 Jun 2020 00:02 |
| Last Modified: | 15 Oct 2024 00:21 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/75778 |
| DOI: | 10.1111/1755-0998.13192 |
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