Peter Audano
Peter Audano
Bioinformatics Scientist, The Jackson Laboratory
Verified email at
Cited by
Cited by
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), 1-16, 2019
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
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
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
KAnalyze: a fast versatile pipelined K-mer toolkit
P Audano, F Vannberg
Bioinformatics 30 (14), 2070-2072, 2014
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
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
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), 1-14, 2019
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
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
Mapping-free variant calling using haplotype reconstruction from k-mer frequencies
PA Audano, S Ravishankar, FO Vannberg
Bioinformatics 34 (10), 1659-1665, 2018
A fully phased accurate assembly of an individual human genome
D Porubsky, P Ebert, PA Audano, MR Vollger, WT Harvey, KM Munson, ...
bioRxiv, 855049, 2019
Pangenome-based genome inference
J Ebler, WE Clarke, T Rausch, PA Audano, T Houwaart, J Korbel, ...
BioRxiv, 2020
A strategy for building and using a human reference pangenome
B Llamas, G Narzisi, V Schneider, PA Audano, E Biederstedt, L Blauvelt, ...
F1000Research 8, 2019
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
Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders
D Porubsky, W Höps, H Ashraf, PH Hsieh, B Rodriguez-Martin, F Yilmaz, ...
bioRxiv, 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, 1-8, 2022
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, 2022
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
SVision: A deep learning approach to resolve complex structural variants
K Ye, J Lin, S Wang, P Audano, J Flores, W Kosters, X Yang, P Jia, ...
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