Paten, Benedict

High-resolution comparative analysis of great ape genomes

Kronenberg, Z. N., Fiddes, I. T., Gordon, D., Murali, S., Cantsilieris, S., Meyerson, O. S., Underwood, J. G., Nelson, B. J., Chaisson, M. J. P., Dougherty, M. L., et al. (2018) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 350

Pangenome Graph Construction from Genome Alignment with Minigraph-Cactus

Hickey, G., Monlong, J., Ebler, J., Novak, A., Eizenga, J. M., Gao, Y., Human Pangenome Reference Consortium, Marschall, T., Li, H., & Paten, B. (2022) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 345

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

Long-read sequence assembly of the gorilla genome

Gordon, D., Huddleston, J., Chaisson, M. J. P., Hill, C. M., Kronenberg, Z. N., Munson, K. M., Malig, M., Raja, A., Fiddes, I., Hillier, L. W., et al. (2016) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 333

Pangenome Graphs

Eizenga, J. M., Novak, A. M., Sibbesen, J. A., Heumos, S., Ghaffaari, A., Hickey, G., Chang, X., Seaman, J. D., Rounthwaite, R., Ebler, J., et al. (2020) · Annual Review of Genomics and Human Genetics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 320

Genotyping structural variants in pangenome graphs using the vg toolkit

Hickey, G., Heller, D., Monlong, J., Sibbesen, J. A., Sirén, J., Eizenga, J., Dawson, E. T., Garrison, E., Novak, A. M., & Paten, B. (2020) · Genome Biology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 319

The Genome 10K Project: A Way Forward

Koepfli, K.-P., Paten, B., Scientists, T. G. 1. C. O., & O’Brien, S. J. (2015) · Annual Review of Animal Biosciences

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 311

HAL: a hierarchical format for storing and analyzing multiple genome alignments

Hickey, G., Paten, B., Earl, D., Zerbino, D., & Haussler, D. (2013) · Bioinformatics

Genomics and Phylogenetic StudiesGenome Rearrangement Algorithms

Cited by 272

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

Lilue, J., Doran, A. G., Fiddes, I. T., Abrudan, M., Armstrong, J., Bennett, R., Chow, W., Collins, J., Collins, S., Czechanski, A., et al. (2018) · Nature Genetics

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 267

Cactus: Algorithms for genome multiple sequence alignment

Paten, B., Earl, D., Nguyen, N., Diekhans, M., Zerbino, D., & Haussler, D. (2011) · Genome Research

Genomics and Phylogenetic StudiesGenome Rearrangement Algorithms

Cited by 243

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

Integrating gene annotation with orthology inference at scale

Kirilenko, B. M., Munegowda, C., Osipova, E., Jebb, D., Sharma, V., Blumer, M., Morales, A. E., Ahmed, A.-W., Kontopoulos, D.-G., Hilgers, L., et al. (2023) · Science

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

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

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

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

Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation

Fiddes, I. T., Armstrong, J., Diekhans, M., Nachtweide, S., Kronenberg, Z. N., Underwood, J. G., Gordon, D., Earl, D., Keane, T., Eichler, E. E., et al. (2018) · Genome Research

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 120

Alignathon: a competitive assessment of whole-genome alignment methods

Earl, D., Nguyen, N., Hickey, G., Harris, R. S., Fitzgerald, S., Beal, K., Seledtsov, I., Molodtsov, V., Raney, B. J., Clawson, H., et al. (2014) · Genome Research

Genomics and Phylogenetic StudiesGenome Rearrangement Algorithms

Cited by 113

Three-dimensional genome rewiring in loci with human accelerated regions

Keough, K. C., Whalen, S., Inoue, F., Przytycki, P. F., Fair, T., Deng, C., Steyert, M., Ryu, H., Lindblad-Toh, K., Karlsson, E., et al. (2023) · Science

Genomics and Chromatin DynamicsChromosomal and Genetic Variations

Cited by 113

Cactus Graphs for Genome Comparisons

Paten, B., Diekhans, M., Earl, D., John, J. S., Ma, J., Suh, B., & Haussler, D. (2011) · Journal of Computational Biology

Genome Rearrangement AlgorithmsGenomics and Phylogenetic Studies

Cited by 102

Haplotype-aware graph indexes

Sirén, J., Garrison, E., Novak, A. M., Paten, B., & Durbin, R. (2020) · Bioinformatics

Algorithms and Data CompressionGenomics and Phylogenetic Studies

Cited by 92

Haplotype-aware pantranscriptome analyses using spliced pangenome graphs

Sibbesen, J. A., Eizenga, J. M., Novak, A. M., Sirén, J., Chang, X., Garrison, E., & Paten, B. (2023) · Nature Methods

Genomics and Phylogenetic StudiesSingle-cell and spatial transcriptomics

Cited by 83

Structurally divergent and recurrently mutated regions of primate genomes

Mao, Y., Harvey, W. T., Porubsky, D., Munson, K. M., Hoekzema, K., Lewis, A. P., Audano, P. A., Rozanski, A., Yang, X., Zhang, S., et al. (2023) · Cell

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 73

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Barbeira, A. N., Dickinson, S. P., Bonazzola, R., Zheng, J., Wheeler, H. E., Torres, J. M., Torstenson, E. S., Shah, K. P., Garcia, T., Edwards, T. L., et al. (2018) · Nature Communications

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 69

Optimal gap-affine alignment in O ( s ) space

Marco-Sola, S., Eizenga, J. M., Guarracino, A., Paten, B., Garrison, E., & Moreto, M. (2023) · Bioinformatics

Algorithms and Data CompressionGenomics and Phylogenetic Studies

Cited by 66