Variation graph toolkit improves read mapping by representing genetic variation in the reference E Garrison, J Sirén, AM Novak, G Hickey, JM Eizenga, ET Dawson, ... Nature biotechnology 36 (9), 875-879, 2018 | 545 | 2018 |
Mapping DNA methylation with high-throughput nanopore sequencing AC Rand, M Jain, JM Eizenga, A Musselman-Brown, HE Olsen, M Akeson, ... Nature methods 14 (4), 411-413, 2017 | 461 | 2017 |
A draft human pangenome reference WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... Nature 617 (7960), 312-324, 2023 | 363 | 2023 |
Genome graphs and the evolution of genome inference B Paten, AM Novak, JM Eizenga, E Garrison Genome research 27 (5), 665-676, 2017 | 315 | 2017 |
Pangenome graphs JM Eizenga, AM Novak, JA Sibbesen, S Heumos, A Ghaffaari, G Hickey, ... Annual review of genomics and human genetics 21 (1), 139-162, 2020 | 195 | 2020 |
Genotyping structural variants in pangenome graphs using the vg toolkit G Hickey, D Heller, J Monlong, JA Sibbesen, J Sirén, J Eizenga, ... Genome biology 21, 1-17, 2020 | 187 | 2020 |
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes J Sirén, J Monlong, X Chang, AM Novak, JM Eizenga, C Markello, ... Science 374 (6574), abg8871, 2021 | 169 | 2021 |
Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads K Shafin, T Pesout, PC Chang, M Nattestad, A Kolesnikov, S Goel, G Baid, ... Nature methods 18 (11), 1322-1332, 2021 | 162 | 2021 |
Superbubbles, ultrabubbles, and cacti B Paten, JM Eizenga, YM Rosen, AM Novak, E Garrison, G Hickey Journal of Computational Biology 25 (7), 649-663, 2018 | 70 | 2018 |
Pangenome graph construction from genome alignments with Minigraph-Cactus G Hickey, J Monlong, J Ebler, AM Novak, JM Eizenga, Y Gao, T Marschall, ... Nature biotechnology 42 (4), 663-673, 2024 | 67 | 2024 |
Genome graphs AM Novak, G Hickey, E Garrison, S Blum, A Connelly, A Dilthey, ... BioRxiv, 101378, 2017 | 54 | 2017 |
A phylogenetic approach for haplotype analysis of sequence data from complex mitochondrial mixtures SH Vohr, R Gordon, JM Eizenga, HA Erlich, CD Calloway, RE Green Forensic Science International: Genetics 30, 93-105, 2017 | 43 | 2017 |
Optimal gap-affine alignment in O(s) space S Marco-Sola, JM Eizenga, A Guarracino, B Paten, E Garrison, M Moreto Bioinformatics 39 (2), btad074, 2023 | 34 | 2023 |
Haplotype-aware variant calling enables high accuracy in nanopore long-reads using deep neural networks K Shafin, T Pesout, PC Chang, M Nattestad, A Kolesnikov, S Goel, G Baid, ... BioRxiv, 2021.03. 04.433952, 2021 | 34 | 2021 |
Efficient dynamic variation graphs JM Eizenga, AM Novak, E Kobayashi, F Villani, C Cisar, S Heumos, ... Bioinformatics 36 (21), 5139-5144, 2020 | 30 | 2020 |
Sequence variation aware genome references and read mapping with the variation graph toolkit E Garrison, J Sirén, AM Novak, G Hickey, JM Eizenga, ET Dawson, ... BioRxiv, 234856, 2017 | 30 | 2017 |
Haplotype-aware pantranscriptome analyses using spliced pangenome graphs JA Sibbesen, JM Eizenga, AM Novak, J Sirén, X Chang, E Garrison, ... Nature Methods 20 (2), 239-247, 2023 | 29 | 2023 |
Aerosol microbiome over the Mediterranean Sea diversity and abundance E Mescioglu, E Rahav, N Belkin, P Xian, JM Eizenga, A Vichik, B Herut, ... Atmosphere 10 (8), 440, 2019 | 29 | 2019 |
Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit J Sirén, J Monlong, X Chang, AM Novak, JM Eizenga, C Markello, ... BioRxiv, 2020.12. 04.412486, 2020 | 25 | 2020 |
Gaps and complex structurally variant loci in phased genome assemblies D Porubsky, MR Vollger, WT Harvey, AN Rozanski, P Ebert, G Hickey, ... Genome research 33 (4), 496-510, 2023 | 20 | 2023 |