Korbel, Jan O.

Pangenome graph construction from genome alignments with Minigraph-Cactus

Hickey, G., Monlong, J., Ebler, J., Novak, A. M., Eizenga, J. M., Gao, Y., Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Asri, M., et al. (2024) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 343

A comprehensive map of mobile element insertion polymorphisms in humans

Stewart, C., Kural, D., Strömberg, M. P., Walker, J. A., Konkel, M. K., Stütz, A. M., Urban, A. E., Grubert, F., Lam, H. Y. K., Lee, W.-P., et al. (2011) · PLoS Genetics

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 307

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Ebler, J., Ebert, P., Clarke, W. E., Rausch, T., Audano, P. A., Houwaart, T., Mao, Y., Korbel, J. O., Eichler, E. E., Zody, M. C., et al. (2022) · Nature Genetics

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 277

Targeted Perturb-seq enables genome-scale genetic screens in single cells

Schraivogel, D., Gschwind, A. R., Milbank, J. H., Leonce, D. R., Jakob, P., Mathur, L., Korbel, J. O., Merten, C. A., Velten, L., & Steinmetz, L. M. (2020) · Nature Methods

Single-cell and spatial transcriptomicsGenomics and Chromatin Dynamics

Cited by 245

Shadow Enhancers Are Pervasive Features of Developmental Regulatory Networks

Cannavò, E., Khoueiry, P., Garfield, D. A., Geeleher, P., Zichner, T., Gustafson, E. H., Ciglar, L., Korbel, J. O., & Furlong, E. E. M. (2016) · Current Biology

Genomics and Chromatin DynamicsDevelopmental Biology and Gene Regulation

Cited by 235

Semi-automated assembly of high-quality diploid human reference genomes

Jarvis, E. D., Formenti, G., Rhie, A., Guarracino, A., Yang, C., Wood, J., Tracey, A., Thibaud-Nissen, F., Vollger, M. R., Porubsky, D., et al. (2022) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 209

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

Human Genome Structural Variation Consortium, Porubsky, D., Ebert, P., Audano, P. A., Vollger, M. R., Harvey, W. T., Marijon, P., Ebler, J., Munson, K. M., Sorensen, M., et al. (2021) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 203

Recombination between heterologous human acrocentric chromosomes

Guarracino, A., Buonaiuto, S., de Lima, L. G., Potapova, T., Rhie, A., Koren, S., Rubinstein, B., Fischer, C., Human Pangenome Reference Consortium, Abel, H. J., et al. (2023) · Nature

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 134

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Zhao, X., Collins, R. L., Lee, W.-P., Weber, A. M., Jun, Y., Zhu, Q., Weisburd, B., Huang, Y., Audano, P. A., Wang, H., et al. (2021) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

Increased mutation and gene conversion within human segmental duplications

Vollger, M. R., Dishuck, P. C., Harvey, W. T., DeWitt, W. S., Guitart, X., Goldberg, M. E., Rozanski, A. N., Lucas, J., Asri, M., Human Pangenome Reference Consortium, et al. (2023) · Nature

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 104

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

Abyzov, A., Li, S., Kim, D. R., Mohiyuddin, M., Stütz, A. M., Parrish, N. F., Mu, X. J., Clark, W., Chen, K., Hurles, M., et al. (2015) · Nature Communications

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 91

Negative Selection and Chromosome Instability Induced by Mad2 Overexpression Delay Breast Cancer but Facilitate Oncogene-Independent Outgrowth

Rowald, K., Mantovan, M., Passos, J., Buccitelli, C., Mardin, B. R., Korbel, J. O., Jechlinger, M., & Sotillo, R. (2016) · Cell Reports

Microtubule and mitosis dynamicsCancer-related Molecular Pathways

Cited by 84

Recurrent inversion toggling and great ape genome evolution

Porubsky, D., Sanders, A. D., Höps, W., Hsieh, P., Sulovari, A., Li, R., Mercuri, L., Sorensen, M., Murali, S. C., Gordon, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 72

AlphaDesign: A de novo protein design framework based on AlphaFold

Jendrusch, M., Korbel, J. O., & Sadiq, S. K. (2021) · bioRxiv (Cold Spring Harbor Laboratory)

Protein Structure and DynamicsRNA and protein synthesis mechanisms

Cited by 65

Genomic profiling of acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis

Ratnaparkhe, M., Hlevnjak, M., Kolb, T., Jauch, A., Maass, K. K., Devens, F., Rode, A., Hovestadt, V, Korshunov, A., Pastorczak, A., et al. (2017) · Leukemia

Acute Lymphoblastic Leukemia researchDNA Repair Mechanisms

Cited by 63

Gaps and complex structurally variant loci in phased genome assemblies

Porubsky, D., Vollger, M. R., Harvey, W. T., Rozanski, A. N., Ebert, P., Hickey, G., Hasenfeld, P., Sanders, A. D., Stober, C., Human Pangenome Reference Consortium, et al. (2023) · Genome Research

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 58

Efficient protein structure generation with sparse denoising models

Jendrusch, M., & Korbel, J. O. (2025) · Nature Machine Intelligence

Protein Structure and DynamicsMachine Learning in Bioinformatics

Cited by 10

Efficient protein structure generation with sparse denoising models

Jendrusch, M., & Korbel, J. O. (2025) · Nature Machine Intelligence

Protein Structure and DynamicsMachine Learning in Bioinformatics

Cited by 10