Publications

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Filters: Keyword is High-Throughput Nucleotide Sequencing  [Clear All Filters]
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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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Stoeckius, M. et al. Simultaneous epitope and transcriptome measurement in single cells. Nat Methods 14, 865-868 (2017).
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Posey, J. E. et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
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Yin, J. et al. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).
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Abel, H. J. et al. Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
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Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
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Willems, T. et al. Genome-wide profiling of heritable and de novo STR variations. Nat Methods 14, 590-592 (2017).
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Palencia-Madrid, L. et al. Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System. Genes (Basel) 11, (2020).
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Brasó-Vives, M. et al. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet 16, e1008742 (2020).
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).
Sanghvi, R. V. et al. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20, 855-866 (2018).
Costello, M. et al. Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms. BMC Genomics 19, 332 (2018).
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Chen, L. et al. Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
Sedlazeck, F. J. et al. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 15, 461-468 (2018).