Ebert, Peter

A draft human pangenome reference.

Liao, W.-W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., et al. (2023) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,129

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M. J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., et al. (2021) · Science

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 702

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

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

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

A comprehensive analysis of 195 DNA methylomes reveals shared and cell-specific features of partially methylated domains

DEEP Consortium, Salhab, A., Nordström, K., Gasparoni, G., Kattler, K., Ebert, P., Ramirez, F., Arrigoni, L., Müller, F., Polansky, J. K., et al. (2018) · Genome Biology

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

Cited by 115

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

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