Publications

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De Coster, W., Weissensteiner, M. H. & Sedlazeck, F. J. Towards population-scale long-read sequencing. Nat Rev Genet 22, 572-587 (2021).
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Mahmoud, M. et al. Structural variant calling: the long and the short of it. Genome Biol 20, 246 (2019).
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Alonge, M. et al. RaGOO: fast and accurate reference-guided scaffolding of draft genomes. Genome Biol 20, 224 (2019).
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Majidian, S. & Sedlazeck, F. J. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience 9, (2020).
Zarate, S. et al. Parliament2: Accurate structural variant calling at scale. Gigascience 9, (2020).
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T Ranallo-Benavidez, R. et al. Optimized sample selection for cost-efficient long-read population sequencing. Genome Res 31, 910-918 (2021).
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Luo, R., Sedlazeck, F. J., Lam, T. - W. & Schatz, M. C. A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
Alonge, M. et al. Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
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Dennenmoser, S. et al. Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish. Mol Ecol 28, 1491-1505 (2019).
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Leija-Salazar, M. et al. Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med 7, e564 (2019).
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Weissensteiner, M. H. et al. Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
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Nattestad, M. et al. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res 28, 1126-1135 (2018).
Sekar, S. et al. Complex mosaic structural variations in human fetal brains. Genome Res 30, 1695-1704 (2020).
Garg, S. et al. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol 39, 309-312 (2021).
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Chiang, T. et al. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med 21, 2135-2144 (2019).
Tusso, S. et al. Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast. Mol Biol Evol 36, 1975-1989 (2019).
Sedlazeck, F. J. et al. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 15, 461-468 (2018).
Wenger, A. M. et al. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol 37, 1155-1162 (2019).