Sedlazeck, Fritz J.

The complete sequence of a human genome

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., et al. (2022) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 3,136

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Wenger, A. M., Peluso, P., Rowell, W. J., Chang, P.-C., Hall, R. J., Concepcion, G. T., Ebler, J., Fungtammasan, A., Kolesnikov, A., Olson, N. D., et al. (2019) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,841

Structural variant calling: the long and the short of it

Mahmoud, M., Gobet, N., Cruz-Dávalos, D. I., Mounier, N., Dessimoz, C., & Sedlazeck, F. J. (2019) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 725

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

Shafin, K., Pesout, T., Lorig-Roach, R., Haukness, M., Olsen, H. E., Bosworth, C., Armstrong, J., Tigyi, K., Maurer, N., Koren, S., et al. (2020) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 567

Piercing the dark matter: bioinformatics of long-range sequencing and mapping

Sedlazeck, F. J., Lee, H., Darby, C. A., & Schatz, M. C. (2018) · Nature Reviews Genetics

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 530

The complete sequence of a human Y chromosome

Rhie, A., Nurk, S., Cechova, M., Hoyt, S. J., Taylor, D. J., Altemose, N., Hook, P. W., Koren, S., Rautiainen, M., Alexandrov, I. A., et al. (2023) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenomics and Phylogenetic Studies

Cited by 471

A complete reference genome improves analysis of human genetic variation

Aganezov, S., Yan, S. M., Soto, D. C., Kirsche, M., Zarate, S., Avdeyev, P., Taylor, D. J., Shafin, K., Shumate, A., Xiao, C., et al. (2022) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 441

A robust benchmark for detection of germline large deletions and insertions

Zook, J. M., Hansen, N. F., Olson, N. D., Chapman, L., Mullikin, J. C., Xiao, C., Sherry, S., Koren, S., Phillippy, A. M., Boutros, P. C., et al. (2020) · Nature Biotechnology

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 418

Towards population-scale long-read sequencing

De Coster, W., Weissensteiner, M. H., & Sedlazeck, F. J. (2021) · Nature Reviews Genetics

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 323

Curated variation benchmarks for challenging medically relevant autosomal genes

Wagner, J., Olson, N. D., Harris, L., McDaniel, J., Cheng, H., Fungtammasan, A., Hwang, Y.-C., Gupta, R., Wenger, A. M., Rowell, W. J., et al. (2022) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 241

Truvari: refined structural variant comparison preserves allelic diversity

English, A. C., Menon, V. K., Gibbs, R. A., Metcalf, G. A., & Sedlazeck, F. J. (2022) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 236

Investigation of product-derived lymphoma following infusion of piggyBac-modified CD19 chimeric antigen receptor T cells

Micklethwaite, K. P., Gowrishankar, K., Gloss, B. S., Li, Z., Street, J. A., Moezzi, L., Mach, M. A., Sutrave, G., Clancy, L. E., Bishop, D. C., et al. (2021) · Blood

CAR-T cell therapy researchVirus-based gene therapy research

Cited by 226

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

Olson, N. D., Wagner, J., McDaniel, J., Stephens, S. H., Westreich, S. T., Prasanna, A. G., Johanson, E., Boja, E., Maier, E. J., Serang, O., et al. (2022) · Cell Genomics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 202

Paragraph: a graph-based structural variant genotyper for short-read sequence data

Chen, S., Krusche, P., Dolzhenko, E., Sherman, R. M., Petrovski, R., Schlesinger, F., Kirsche, M., Bentley, D. R., Schatz, M. C., Sedlazeck, F. J., et al. (2019) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 196

Comprehensive genome analysis and variant detection at scale using DRAGEN

Behera, S., Catreux, S., Rossi, M., Truong, S., Huang, Z., Ruehle, M., Visvanath, A., Parnaby, G., Roddey, C., Onuchic, V., et al. (2025) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 137

The genomic basis of circadian and circalunar timing adaptations in a midge

Kaiser, T. S., Poehn, B., Szkiba, D., Preussner, M., Sedlazeck, F. J., Zrim, A., Neumann, T., Nguyen, L.-T., Betancourt, A. J., Hummel, T., et al. (2016) · Nature

Circadian rhythm and melatoninPhysiological and biochemical adaptations

Cited by 109

TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data

Huang, L., Rosen, J. D., Sun, Q., Chen, J., Wheeler, M. M., Zhou, Y., Min, Y.-I., Kooperberg, C., Conomos, M. P., Stilp, A. M., et al. (2022) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 97

A diploid assembly-based benchmark for variants in the major histocompatibility complex

Chin, C.-S., Wagner, J., Zeng, Q., Garrison, E., Garg, S., Fungtammasan, A., Rautiainen, M., Aganezov, S., Kirsche, M., Zarate, S., et al. (2020) · Nature Communications

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 82

Analysis and benchmarking of small and large genomic variants across tandem repeats

English, A. C., Dolzhenko, E., Ziaei Jam, H., McKenzie, S. K., Olson, N. D., De Coster, W., Park, J., Gu, B., Wagner, J., Eberle, M. A., et al. (2025) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 68

Combined transcriptome and proteome profiling reveals specific molecular brain signatures for sex, maturation and circalunar clock phase

Schenk, S., Bannister, S. C., Sedlazeck, F. J., Anrather, D., Minh, B. Q., Bileck, A., Hartl, M., von Haeseler, A., Gerner, C., Raible, F., et al. (2019) · eLife

Circadian rhythm and melatoninReproductive biology and impacts on aquatic species

Cited by 59

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

Toffoli, M., Chen, X., Sedlazeck, F. J., Lee, C.-Y., Mullin, S., Higgins, A., Koletsi, S., Garcia-Segura, M. E., Sammler, E., Scholz, S. W., et al. (2022) · Communications Biology

Lysosomal Storage Disorders ResearchGenomics and Rare Diseases

Cited by 59

The Candida albicans Histone Acetyltransferase Hat1 Regulates Stress Resistance and Virulence via Distinct Chromatin Assembly Pathways

Tscherner, M., Zwolanek, F., Jenull, S., Sedlazeck, F. J., Petryshyn, A., Frohner, I. E., Mavrianos, J., Chauhan, N., von Haeseler, A., & Kuchler, K. (2015) · PLOS Pathogens

Fungal and yeast genetics researchGenomics and Chromatin Dynamics

Cited by 57

Multiple genome alignment in the telomere-to-telomere assembly era

Kille, B., Balaji, A., Sedlazeck, F. J., Nute, M., & Treangen, T. J. (2022) · Genome Biology

Genomics and Phylogenetic StudiesGenome Rearrangement Algorithms

Cited by 47

FixItFelix: improving genomic analysis by fixing reference errors

Behera, S., LeFaive, J., Orchard, P., Mahmoud, M., Paulin, L. F., Farek, J., Soto, D. C., Parker, S. C. J., Smith, A. V., Dennis, M. Y., et al. (2023) · Genome Biology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 28