Publications

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2021
Garg, S. et al. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol 39, 309-312 (2021).
T Ranallo-Benavidez, R. et al. Optimized sample selection for cost-efficient long-read population sequencing. Genome Res 31, 910-918 (2021).
De Coster, W., Weissensteiner, M. H. & Sedlazeck, F. J. Towards population-scale long-read sequencing. Nat Rev Genet 22, 572-587 (2021).
2020
Sekar, S. et al. Complex mosaic structural variations in human fetal brains. Genome Res 30, 1695-1704 (2020).
Weissensteiner, M. H. et al. Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Alonge, M. et al. Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
Zarate, S. et al. Parliament2: Accurate structural variant calling at scale. Gigascience 9, (2020).
Majidian, S. & Sedlazeck, F. J. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience 9, (2020).
2019
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).
Tusso, S. et al. Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast. Mol Biol Evol 36, 1975-1989 (2019).
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).
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).
Dennenmoser, S. et al. Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish. Mol Ecol 28, 1491-1505 (2019).
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. RaGOO: fast and accurate reference-guided scaffolding of draft genomes. Genome Biol 20, 224 (2019).
Mahmoud, M. et al. Structural variant calling: the long and the short of it. Genome Biol 20, 246 (2019).
2018
Sedlazeck, F. J. et al. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 15, 461-468 (2018).
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).