| Multi-platform discovery of haplotype-resolved structural variation in human genomes MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ... Nature communications 10 (1), 1784, 2019 | 843 | 2019 |
| Haplotype-resolved diverse human genomes and integrated analysis of structural variation P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... Science 372 (6537), eabf7117, 2021 | 557 | 2021 |
| Characterizing the major structural variant alleles of the human genome PA Audano, A Sulovari, TA Graves-Lindsay, S Cantsilieris, M Sorensen, ... Cell 176 (3), 663-675. e19, 2019 | 482 | 2019 |
| Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads D Porubsky, P Ebert, PA Audano, MR Vollger, WT Harvey, P Marijon, ... Nature biotechnology 39 (3), 302-308, 2021 | 177* | 2021 |
| Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes J Ebler, P Ebert, WE Clarke, T Rausch, PA Audano, T Houwaart, Y Mao, ... Nature genetics 54 (4), 518-525, 2022 | 174* | 2022 |
| Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads MR Vollger, GA Logsdon, PA Audano, A Sulovari, D Porubsky, P Peluso, ... Annals of human genetics 84 (2), 125-140, 2020 | 137 | 2020 |
| Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility WC Warren, RA Harris, M Haukness, IT Fiddes, SC Murali, J Fernandes, ... Science 370 (6523), eabc6617, 2020 | 135 | 2020 |
| Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies X Zhao, RL Collins, WP Lee, AM Weber, Y Jun, Q Zhu, B Weisburd, ... The American Journal of Human Genetics 108 (5), 919-928, 2021 | 115 | 2021 |
| Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders D Porubsky, W Höps, H Ashraf, PH Hsieh, B Rodriguez-Martin, F Yilmaz, ... Cell 185 (11), 1986-2005. e26, 2022 | 114 | 2022 |
| Human-specific tandem repeat expansion and differential gene expression during primate evolution A Sulovari, R Li, PA Audano, D Porubsky, MR Vollger, GA Logsdon, ... Proceedings of the National Academy of Sciences 116 (46), 23243-23253, 2019 | 108 | 2019 |
| Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants Y He, X Luo, B Zhou, T Hu, X Meng, PA Audano, ZN Kronenberg, ... Nature communications 10 (1), 4233, 2019 | 78 | 2019 |
| KAnalyze: a fast versatile pipelined K-mer toolkit P Audano, F Vannberg Bioinformatics 30 (14), 2070-2072, 2014 | 70 | 2014 |
| A high-quality bonobo genome refines the analysis of hominid evolution Y Mao, CR Catacchio, LDW Hillier, D Porubsky, R Li, A Sulovari, ... Nature 594 (7861), 77-81, 2021 | 68 | 2021 |
| Assembly of 43 human Y chromosomes reveals extensive complexity and variation P Hallast, P Ebert, M Loftus, F Yilmaz, PA Audano, GA Logsdon, ... Nature 621 (7978), 355-364, 2023 | 61 | 2023 |
| Familial long-read sequencing increases yield of de novo mutations MD Noyes, WT Harvey, D Porubsky, A Sulovari, R Li, NR Rose, ... The American Journal of Human Genetics 109 (4), 631-646, 2022 | 57 | 2022 |
| SVision: a deep learning approach to resolve complex structural variants J Lin, S Wang, PA Audano, D Meng, JI Flores, W Kosters, X Yang, P Jia, ... Nature methods 19 (10), 1230-1233, 2022 | 49 | 2022 |
| Utility of long-read sequencing for All of Us M Mahmoud, Y Huang, K Garimella, PA Audano, W Wan, N Prasad, ... Nature communications 15 (1), 837, 2024 | 46 | 2024 |
| Transposable element-mediated rearrangements are prevalent in human genomes P Balachandran, IA Walawalkar, JI Flores, JN Dayton, PA Audano, ... Nature Communications 13 (1), 7115, 2022 | 43 | 2022 |
| Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements A Ferraj, PA Audano, P Balachandran, A Czechanski, JI Flores, ... Cell Genomics 3 (5), 2023 | 42 | 2023 |
| Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, eabf7117 P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ... | 33 | 2021 |
Evan EichlerProfessor of Genome Sciences, University of WashingtonVerified email at gs.washington.edu