DIKUL - logo

Search results

Basic search    Expert search   

Currently you are NOT authorised to access e-resources UL. For full access, REGISTER.

1 2 3 4
hits: 38
1.
  • Long-read human genome sequ... Long-read human genome sequencing and its applications
    Logsdon, Glennis A; Vollger, Mitchell R; Eichler, Evan E Nature reviews. Genetics, 10/2020, Volume: 21, Issue: 10
    Journal Article
    Peer reviewed
    Open access

    Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length ...
Full text
Available for: UL

PDF
2.
  • HiCanu: accurate assembly o... HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
    Nurk, Sergey; Walenz, Brian P; Rhie, Arang ... Genome research, 09/2020, Volume: 30, Issue: 9
    Journal Article
    Peer reviewed
    Open access

    Complete and accurate genome assemblies form the basis of most downstream genomic analyses and are of critical importance. Recent genome assembly projects have relied on a combination of noisy ...
Full text
Available for: UL

PDF
3.
  • Nanopore sequencing and the... Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
    Shafin, Kishwar; Pesout, Trevor; Lorig-Roach, Ryan ... Nature biotechnology, 09/2020, Volume: 38, Issue: 9
    Journal Article
    Peer reviewed
    Open access

    De novo assembly of a human genome using nanopore long-read sequences has been reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable rapid human genome assembly, ...
Full text
Available for: UL

PDF
4.
  • The structure, function and... The structure, function and evolution of a complete human chromosome 8
    Logsdon, Glennis A; Vollger, Mitchell R; Hsieh, PingHsun ... Nature (London), 05/2021, Volume: 593, Issue: 7857
    Journal Article
    Peer reviewed
    Open access

    The complete assembly of each human chromosome is essential for understanding human biology and evolution . Here we use complementary long-read sequencing technologies to complete the linear assembly ...
Full text
Available for: UL

PDF
5.
  • Epigenetic patterns in a co... Epigenetic patterns in a complete human genome
    Gershman, Ariel; Sauria, Michael E G; Guitart, Xavi ... Science (American Association for the Advancement of Science), 04/2022, Volume: 376, Issue: 6588
    Journal Article
    Peer reviewed
    Open access

    The completion of a telomere-to-telomere human reference genome, T2T-CHM13, has resolved complex regions of the genome, including repetitive and homologous regions. Here, we present a high-resolution ...
Full text
Available for: NUK, ODKLJ
6.
  • StainedGlass: interactive v... StainedGlass: interactive visualization of massive tandem repeat structures with identity heatmaps
    Vollger, Mitchell R; Kerpedjiev, Peter; Phillippy, Adam M ... Bioinformatics, 03/2022, Volume: 38, Issue: 7
    Journal Article
    Peer reviewed
    Open access

    Abstract Summary The visualization and analysis of genomic repeats is typically accomplished using dot plots; however, the emergence of telomere-to-telomere assemblies with multi-megabase repeats ...
Full text
Available for: UL

PDF
7.
  • From telomere to telomere: ... From telomere to telomere: The transcriptional and epigenetic state of human repeat elements
    Hoyt, Savannah J; Storer, Jessica M; Hartley, Gabrielle A ... Science (American Association for the Advancement of Science), 04/2022, Volume: 376, Issue: 6588
    Journal Article
    Peer reviewed
    Open access

    Mobile elements and repetitive genomic regions are sources of lineage-specific genomic innovation and uniquely fingerprint individual genomes. Comprehensive analyses of such repeat elements, ...
Full text
Available for: NUK, ODKLJ
8.
  • Characterization of large-s... Characterization of large-scale genomic differences in the first complete human genome
    Yang, Xiangyu; Wang, Xuankai; Zou, Yawen ... Genome Biology, 07/2023, Volume: 24, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    The first telomere-to-telomere (T2T) human genome assembly (T2T-CHM13) release is a milestone in human genomics. The T2T-CHM13 genome assembly extends our understanding of telomeres, centromeres, ...
Full text
Available for: UL
9.
  • Segmental duplications and ... Segmental duplications and their variation in a complete human genome
    Vollger, Mitchell R; Guitart, Xavi; Dishuck, Philip C ... Science (American Association for the Advancement of Science), 04/2022, Volume: 376, Issue: 6588
    Journal Article
    Peer reviewed
    Open access

    Despite their importance in disease and evolution, highly identical segmental duplications (SDs) are among the last regions of the human reference genome (GRCh38) to be fully sequenced. Using a ...
Full text
Available for: NUK, ODKLJ
10.
  • Improved assembly and varia... Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
    Vollger, Mitchell R.; Logsdon, Glennis A.; Audano, Peter A. ... Annals of human genetics, March 2020, Volume: 84, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    The sequence and assembly of human genomes using long‐read sequencing technologies has revolutionized our understanding of structural variation and genome organization. We compared the accuracy, ...
Full text
Available for: UL

PDF
1 2 3 4
hits: 38

Load filters