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Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes

1
Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, 752 36 Uppsala, Sweden
2
Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Clayton, VIC 3800, Australia
*
Author to whom correspondence should be addressed.
Genes 2020, 11(12), 1444; https://doi.org/10.3390/genes11121444
Received: 12 October 2020 / Revised: 24 November 2020 / Accepted: 26 November 2020 / Published: 30 November 2020
(This article belongs to the Section Human Genomics and Genetic Diseases)
Long-read single molecule sequencing is increasingly used in human genomics research, as it allows to accurately detect large-scale DNA rearrangements such as structural variations (SVs) at high resolution. However, few studies have evaluated the performance of different single molecule sequencing platforms for SV detection in human samples. Here we performed Oxford Nanopore Technologies (ONT) whole-genome sequencing of two Swedish human samples (average 32× coverage) and compared the results to previously generated Pacific Biosciences (PacBio) data for the same individuals (average 66× coverage). Our analysis inferred an average of 17k and 23k SVs from the ONT and PacBio data, respectively, with a majority of them overlapping with an available multi-platform SV dataset. When comparing the SV calls in the two Swedish individuals, we find a higher concordance between ONT and PacBio SVs detected in the same individual as compared to SVs detected by the same technology in different individuals. Downsampling of PacBio reads, performed to obtain similar coverage levels for all datasets, resulted in 17k SVs per individual and improved overlap with the ONT SVs. Our results suggest that ONT and PacBio have a similar performance for SV detection in human whole genome sequencing data, and that both technologies are feasible for population-scale studies. View Full-Text
Keywords: Swedish population; whole-genome sequencing; single-molecule sequencing; nanopore; PacBio; human genome; structural variation Swedish population; whole-genome sequencing; single-molecule sequencing; nanopore; PacBio; human genome; structural variation
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MDPI and ACS Style

Fatima, N.; Petri, A.; Gyllensten, U.; Feuk, L.; Ameur, A. Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes. Genes 2020, 11, 1444. https://doi.org/10.3390/genes11121444

AMA Style

Fatima N, Petri A, Gyllensten U, Feuk L, Ameur A. Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes. Genes. 2020; 11(12):1444. https://doi.org/10.3390/genes11121444

Chicago/Turabian Style

Fatima, Nazeefa; Petri, Anna; Gyllensten, Ulf; Feuk, Lars; Ameur, Adam. 2020. "Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes" Genes 11, no. 12: 1444. https://doi.org/10.3390/genes11121444

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