Searching journal content for articles similar to Schmitz et al. 35 (11): 2377.

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  1. Research: Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
    • Kristine Bilgrav Saether,
    • Angelo Salazar Mantero,
    • Marlene Ek,
    • Maria Pettersson,
    • Elisabeth Syk Lundberg,
    • Christopher M. Grochowski,
    • Claudia M.B. Carvalho,
    • Jesper Eisfeldt,
    • and Anna Lindstrand
    Genome Res. March 25, 2026 ; Published in Advance March 25, 2026, doi:10.1101/gr.281175.125
    ...rescue as a key formation mechanism. This work illustrates the feasibility of resolving highly challenging chromosomal abnormalities using long-read sequencing technologies. National Genomics Infrastructure Uppsala Multidisciplinary Center for Advanced Computational Science UPPMAX Swedish Research...
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  2. Resource: Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
    • Wouter De Coster,
    • Ida Höijer,
    • Inge Bruggeman,
    • Svenn D'Hert,
    • Malin Melin,
    • Adam Ameur,
    • and Rosa Rademakers
    Genome Res. November 2024 34: 2074-2080; Published in Advance August 15, 2024, doi:10.1101/gr.279265.124
    ...(NGI) in Uppsala, Sweden. Basecalling was done with Guppy (v6.3.8, Super-accurate basecalling with base modifications 5mC context, MinKNOW, ONT), followed by alignment to the GRCh38 reference with minimap2 (v2.24-r1122, with parameters -H -ax map-ont).Ethics declarationThe Swedish ethical review...
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  3. Research: A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
    • Jesper Eisfeldt,
    • Adam Ameur,
    • Felix Lenner,
    • Esmee Ten Berk de Boer,
    • Marlene Ek,
    • Josephine Wincent,
    • Raquel Vaz,
    • Jesper Ottosson,
    • Tord Jonson,
    • Sofie Ivarsson,
    • Sofia Thunström,
    • Alexandra Topa,
    • Simon Stenberg,
    • Anna Rohlin,
    • Anna Sandestig,
    • Margareta Nordling,
    • Pia Palmebäck,
    • Magnus Burstedt,
    • Frida Nordin,
    • Eva-Lena Stattin,
    • Maria Sobol,
    • Panagiotis Baliakas,
    • Marie-Louise Bondeson,
    • Ida Höijer,
    • Kristine Bilgrav Saether,
    • Lovisa Lovmar,
    • Hans Ehrencrona,
    • Malin Melin,
    • Lars Feuk,
    • and Anna Lindstrand
    Genome Res. November 2024 34: 1774-1784; Published in Advance October 29, 2024, doi:10.1101/gr.279510.124
    ...present a compelling alternative for clinical diagnostics. Here, Genomic Medicine Sweden—Rare Diseases has explored the utility of HiFi Revio long-read sequencing (lrGS) for digital karyotyping of SVs nationwide. The 16 samples from 13 families were collected from all Swedish healthcare regions. Prior...
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  4. Research: Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
    • Kristine Bilgrav Saether,
    • Jesper Eisfeldt,
    • Jesse D. Bengtsson,
    • Ming Yin Lun,
    • Christopher M. Grochowski,
    • Medhat Mahmoud,
    • Hsiao-Tuan Chao,
    • Jill A. Rosenfeld,
    • Pengfei Liu,
    • Marlene Ek,
    • Jakob Schuy,
    • Adam Ameur,
    • Hongzheng Dai,
    • Undiagnosed Diseases Network,
    • James Paul Hwang,
    • Fritz J. Sedlazeck,
    • Weimin Bi,
    • Ronit Marom,
    • Josephine Wincent,
    • Ann Nordgren,
    • Claudia M.B. Carvalho,
    • and Anna Lindstrand
    Genome Res. November 2024 34: 1785-1797; Published in Advance November 1, 2024, doi:10.1101/gr.279346.124
    ...) (Ameur et al. 2017), consists of 1000 unrelated Swedish individuals representing the genetic variation in the Swedish population. In brief, the individuals were selected from the Swedish Twin Registry, a nationwide cohort of 10,000 Swedish-born individuals. The samples were sequenced using Illumina short-read...
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  5. Review: Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
    • Terence Gall-Duncan,
    • Nozomu Sato,
    • Ryan K.C. Yuen,
    • and Christopher E. Pearson
    Genome Res. January 2022 32: 1-27; Published in Advance December 29, 2021, doi:10.1101/gr.269530.120
    ...a; Miga et al. 2020; Hoyt et al. 2021; Logsdon et al. 2021; Nurk et al. 2021). The new T2T-CHM13 reference includes gapless assemblies for all 22 autosomes plus Chromosome X. As expected, many of the gaps were occupied by repeat-rich sequences such as pericentromeric regions, ribosomal DNA arrays...
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