Dr. Jana Ebler
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
AM Wenger, P Peluso, WJ Rowell, PC Chang, RJ Hall, GT Concepcion, ...
Nature biotechnology 37 (10), 1155-1162, 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
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
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
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
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
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
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
Haplotype threading: accurate polyploid phasing from long reads
SD Schrinner, RS Mari, J Ebler, M Rautiainen, L Seillier, JJ Reimer, ...
Genome biology 21, 1-22, 2020
Haplotype-aware diplotyping from noisy long reads
J Ebler, M Haukness, T Pesout, T Marschall, B Paten
Genome biology 20, 1-16, 2019
Pangenome-based genome inference
J Ebler, WE Clarke, T Rausch, PA Audano, T Houwaart, J Korbel, ...
BioRxiv, 2020.11. 11.378133, 2020
A multi-platform reference for somatic structural variation detection
JE Valle-Inclan, NJM Besselink, E de Bruijn, DL Cameron, J Ebler, ...
Cell Genomics 2 (6), 2022
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
Genotyping inversions and tandem duplications
J Ebler, A Schönhuth, T Marschall
Bioinformatics 33 (24), 4015-4023, 2017
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
Inversion polymorphism in a complete human genome assembly
D Porubsky, WT Harvey, AN Rozanski, J Ebler, W Höps, H Ashraf, ...
Genome Biology 24 (1), 100, 2023
Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall
WT Harvey, P Ebert, J Ebler, PA Audano, KM Munson, K Hoekzema, ...
Genome research 33 (12), 2029-2040, 2023
BubbleGun: enumerating bubbles and superbubbles in genome graphs
F Dabbaghie, J Ebler, T Marschall
Bioinformatics 38 (17), 4217-4219, 2022
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, 2021.12. 20.472354, 2021
Mako: a graph-based pattern growth approach to detect complex structural variants
J Lin, X Yang, W Kosters, T Xu, Y Jia, S Wang, Q Zhu, M Ryan, L Guo, ...
Genomics, Proteomics and Bioinformatics 20 (1), 205-218, 2022
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