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D. Porubsky · SciRah

Researcher profile · Semantic Scholar

D. Porubsky

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D. Porubsky — researcher profile on SciRah

h-index: 37
Works: 85
Citations: 10K

Most-cited papers

The complete sequence of a human genome
S. Nurk, S. Koren, A. Rhie, Mikko Rautiainen +96 more
2021bioRxiv2,660 citations Open access
Semantic Scholar
A draft human pangenome reference
Wen-Wei Liao, Mobin Asri, Jana Ebler, D. Doerr +115 more
2022bioRxiv983 citations Open access
Semantic Scholar
Multi-platform discovery of haplotype-resolved structural variation in human genomes
M. Chaisson, A. Sanders, Xue-Fang Zhao, A. Malhotra +93 more
2017Nature Communications813 citations Open access
Semantic Scholar
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Peter Ebert, P. Audano, Qi-Hui Zhu, B. Rodriguez-Martin +61 more
2021Science671 citations Open access
Semantic Scholar
Telomere-to-telomere assembly of a complete human X chromosome
K. Miga, S. Koren, A. Rhie, M. Vollger +49 more
2019Nature635 citations Open access
Semantic Scholar
The complete sequence of a human Y chromosome
A. Rhie, S. Nurk, Monika Cechova, S. Hoyt +83 more
2023bioRxiv443 citations Open access
Semantic Scholar
Telomere-to-telomere assembly of diploid chromosomes with Verkko
Mikko Rautiainen, S. Nurk, B. Walenz, G. Logsdon +5 more
2023Nature Biotechnology360 citations Open access
Semantic Scholar
SEGMENTAL DUPLICATIONS AND THEIR VARIATION IN A COMPLETE HUMAN GENOME
M. Vollger, Xavier Guitart, Philip C. Dishuck, L. Mercuri +16 more
2021bioRxiv312 citations Open access
Semantic Scholar
The structure, function and evolution of a complete human chromosome 8
G. Logsdon, M. Vollger, Ping-Hsun Hsieh, Ya-Fei Mao +28 more
2020Nature295 citations Open access
Semantic Scholar
Semi-automated assembly of high-quality diploid human reference genomes
E. Jarvis, G. Formenti, A. Rhie, A. Guarracino +79 more
2022Nature185 citations Open access
Semantic Scholar
The variation and evolution of complete human centromeres
G. Logsdon, Allison N. Rozanski, F. Ryabov, Tamara A. Potapova +16 more
2023bioRxiv181 citations Open access
Semantic Scholar
Fully phased human genome assembly without parental data using single-cell Strand-seq and long reads
D. Porubsky, Peter Ebert, P. Audano, M. Vollger +17 more
2020Nature Biotechnology162 citations Open access
Semantic Scholar
Complete sequencing of ape genomes
DongAhn Yoo, A. Rhie, Prajna Hebbar, F. Antonacci +119 more
2024bioRxiv151 citations Open access
Semantic Scholar
Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
D. Porubsky, Wolfram Höps, Hufsah Ashraf, Ping-Hsun Hsieh +21 more
2022Cell149 citations Open access
Semantic Scholar
Sequence diversity analyses of an improved rhesus macaque genome enhances its biomedical utility
W. Warren, R. Harris, Marina Haukness, Ian T. Fiddes +56 more
2020Science149 citations Open access
Semantic Scholar
Human-specific tandem repeat expansion and differential gene expression during primate evolution
Arvis Sulovari, Ruiyang Li, P. Audano, D. Porubsky +6 more
2019Proceedings of the National Academy of Sciences of the United States of America122 citations Open access
Semantic Scholar
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads
M. Vollger, G. Logsdon, P. Audano, Arvis Sulovari +13 more
2019bioRxiv118 citations Open access
Semantic Scholar
Recombination between heterologous human acrocentric chromosomes
A. Guarracino, S. Buonaiuto, L. G. de Lima, Tamara A. Potapova +119 more
2023bioRxiv112 citations Open access
Semantic Scholar
Complex genetic variation in nearly complete human genomes
G. Logsdon, Peter Ebert, P. Audano, Mark Loftus +64 more
2024bioRxiv106 citations Open access
Semantic Scholar
Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C
Z. Kronenberg, A. Rhie, S. Koren, G. Concepcion +17 more
2021Nature Communications104 citations Open access
Semantic Scholar
Human de novo mutation rates from a four-generation pedigree reference
D. Porubsky, H. Dashnow, T. Sasani, G. Logsdon +43 more
2025Nature100 citations Open access
Semantic Scholar
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
P. Hallast, Peter Ebert, M. Loftus, Feyza Yilmaz +28 more
2023Nature94 citations Open access
Semantic Scholar
Dense and accurate whole-chromosome haplotyping of individual genomes
D. Porubsky, S. Garg, A. Sanders, J. Korbel +3 more
2017Nature Communications87 citations Open access
Semantic Scholar
Increased mutation and gene conversion within human segmental duplications
M. Vollger, Philip C. Dishuck, William T. Harvey, William S. DeWitt +15 more
2023Nature86 citations Open access
Semantic Scholar
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
Ping-Hsun Hsieh, M. Vollger, Vy Dang, D. Porubsky +16 more
2019Science78 citations Open access
Semantic Scholar
Single-cell analysis of structural variations and complex rearrangements with tri-channel-processing
A. Sanders, S. Meiers, M. Ghareghani, D. Porubsky +19 more
2019Nature Biotechnology77 citations Open access
Semantic Scholar
Complex genetic variation in nearly complete human genomes
G. Logsdon, Peter Ebert, P. Audano, Mark Loftus +64 more
2025Nature65 citations Open access
Semantic Scholar
Recurrent inversion toggling and great ape genome evolution
D. Porubsky, A. Sanders, Wolfram Höps, Ping-Hsun Hsieh +13 more
2020Nature Genetics63 citations Open access
Semantic Scholar
A high-quality bonobo genome refines the analysis of hominid evolution
Ya-Fei Mao, C. Catacchio, L. Hillier, D. Porubsky +35 more
2021Nature61 citations Open access
Semantic Scholar
Familial long-read sequencing increases yield of de novo mutations.
Michelle D. Noyes, William T. Harvey, D. Porubsky, Arvis Sulovari +17 more
2022American Journal of Human Genetics58 citations Open access
Semantic Scholar
SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies
D. Porubsky, Xavi Guitart, DongAhn Yoo, Philip C. Dishuck +2 more
2024bioRxiv57 citations Open access
Semantic Scholar
A complete diploid human genome benchmark for personalized genomics
Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji, A. Rhie +61 more
2025bioRxiv56 citations
Semantic Scholar
Direct chromosome-length haplotyping by single-cell sequencing
D. Porubsky, A. Sanders, Niek van Wietmarschen, E. Falconer +5 more
2016Genome Research56 citations Open access
Semantic Scholar
Structurally divergent and recurrently mutated regions of primate genomes
Ya-Fei Mao, William T. Harvey, D. Porubsky, K. Munson +23 more
2023bioRxiv52 citations Open access
Semantic Scholar
Gaps and complex structurally variant loci in phased genome assemblies
D. Porubsky, M. Vollger, William T. Harvey, Allison N. Rozanski +9 more
2022bioRxiv52 citations Open access
Semantic Scholar
The Platinum Pedigree: A long-read benchmark for genetic variants
Z. Kronenberg, Cillian Nolan, D. Porubsky, T. Mokveld +30 more
2024bioRxiv41 citations Open access
Semantic Scholar
A 25-year odyssey of genomic technology advances and structural variant discovery
D. Porubsky, E. Eichler
2024Cell40 citations Open access
Semantic Scholar
Functional analysis of structural variants in single cells using Strand-seq
Hyobin Jeong, Karen Grimes, Kerstin K. Rauwolf, P. Bruch +17 more
2022Nature Biotechnology34 citations Open access
Semantic Scholar
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
D. Pellerin, G. D. Del Gobbo, M. Couse, E. Dolzhenko +125 more
2024Nature Genetics33 citations Open access
Semantic Scholar
Verkko: telomere-to-telomere assembly of diploid chromosomes
Mikko Rautiainen, S. Nurk, B. Walenz, G. Logsdon +5 more
2022bioRxiv32 citations Open access
Semantic Scholar
Inversion polymorphism in a complete human genome assembly
D. Porubsky, William T. Harvey, Allison N. Rozanski, Jana Ebler +8 more
2022bioRxiv28 citations Open access
Semantic Scholar
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
Ryan Lorig-Roach, Melissa Meredith, Jean Monlong, Miten Jain +19 more
2023bioRxiv27 citations Open access
Semantic Scholar
Strand-seq enables reliable separation of long reads by chromosome via expectation maximization
M. Ghareghani, D. Porubsky, A. Sanders, S. Meiers +3 more
2018Bioinform.26 citations Open access
Semantic Scholar
Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall
William T. Harvey, Peter Ebert, Jana Ebler, P. Audano +7 more
2023bioRxiv25 citations Open access
Semantic Scholar
A fully phased accurate assembly of an individual human genome
D. Porubsky, Peter Ebert, P. Audano, M. Vollger +15 more
2019bioRxiv25 citations Open access
Semantic Scholar
Structurally divergent and recurrently mutated regions of primate genomes
Yafei Mao, William T. Harvey, D. Porubsky, K. Munson +30 more
2024Cell24 citations Open access
Semantic Scholar
Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall
William T. Harvey, Peter Ebert, Jana Ebler, P. Audano +7 more
2023Genome Research21 citations Open access
Semantic Scholar
Spectrum of mutations in gastrointestinal stromal tumor patients – a population‐based study from Slovakia
G. Minárik, L. Plank, Z. Lasabová, T. Szemeš +5 more
2013Acta Pathologica, Microbiologica et Immunologica Scandinavica (APMIS)20 citations
Semantic Scholar
Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
Xavi Guitart, D. Porubsky, DongAhn Yoo, Max L. Dougherty +8 more
2024bioRxiv17 citations Open access
Semantic Scholar
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
F. A. M. Maggiolini, A. Sanders, Colin J. Shew, Arvis Sulovari +14 more
2020Genome Research17 citations Open access
Semantic Scholar

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