Publications

Export 14 results:
Author Title [ Year(Desc)]
Filters: Keyword is High-Throughput Nucleotide Sequencing  [Clear All Filters]
2017
Willems, T. et al. Genome-wide profiling of heritable and de novo STR variations. Nat Methods 14, 590-592 (2017).
Posey, J. E. et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Stoeckius, M. et al. Simultaneous epitope and transcriptome measurement in single cells. Nat Methods 14, 865-868 (2017).
2018
Sedlazeck, F. J. et al. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 15, 461-468 (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).
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).
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).
2020
Brasó-Vives, M. et al. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet 16, e1008742 (2020).
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).
Abel, H. J. et al. Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Yin, J. et al. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).
2021
Chen, L. et al. Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
De Coster, W., Weissensteiner, M. H. & Sedlazeck, F. J. Towards population-scale long-read sequencing. Nat Rev Genet 22, 572-587 (2021).