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 (2021). doi:10.1038/s41576-021-00367-3
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
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).
Beck, C. R. et al. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell 176, 1310-1324.e10 (2019).