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  1. Research: ISWI1 complex proteins facilitate developmental genome editing in Paramecium
    • Aditi Singh,
    • Lilia Häußermann,
    • Christiane Emmerich,
    • Emily Nischwitz,
    • Brandon KB Seah,
    • Falk Butter,
    • Mariusz Nowacki,
    • and Estienne C. Swart
    Genome Res. November 14, 2024 gr.278402.123; Published in Advance November 14, 2024, doi:10.1101/gr.278402.123
    OPEN ACCESS ARTICLEACCEPTED MANUSCRIPT
  2. Research: Multiple paralogues and recombination mechanisms contribute to the high incidence of 22q11.2 Deletion Syndrome
    • Lisanne Vervoort,
    • Nicolas Dierckxsens,
    • Marta Sousa Santos,
    • Senne Meynants,
    • Erika Souche,
    • Ruben Cools,
    • Tracy Heung,
    • Koen Devriendt,
    • Hilde Peeters,
    • Donna McDonald-McGinn,
    • Ann Swillen,
    • Jeroen Breckpot,
    • Beverly S. Emanuel,
    • Hilde Van Esch,
    • Anne S. Bassett,
    • and Joris R. Vermeesch
    Genome Res. November 13, 2024 gr.279331.124; Published in Advance November 13, 2024, doi:10.1101/gr.279331.124
    ACCEPTED MANUSCRIPT
  3. Research: Genomic epidemiology of carbapenem-resistant Enterobacterales at a New York City hospital over a 10-year period reveals complex plasmid-clone dynamics and evidence for frequent horizontal transfer of blaKPC
    • Angela Gomez-Simmonds,
    • Medini K. Annavajhala,
    • Dwayne Seeram,
    • Todd W. Hokunson,
    • Heekuk Park,
    • and Anne-Catrin Uhlemann
    Genome Res. October 4, 2024 ; Published in Advance October 4, 2024, doi:10.1101/gr.279355.124
    OPEN ACCESS ARTICLE
  4. Research: Enhanced detection of RNA modifications and read mapping with high-accuracy nanopore RNA basecalling models
    • Gregor Diensthuber,
    • Leszek P. Pryszcz,
    • Laia Llovera,
    • Morghan C. Lucas,
    • Anna Delgado-Tejedor,
    • Sonia Cruciani,
    • Jean-Yves Roignant,
    • Oguzhan Begik,
    • and Eva Maria Novoa
    Genome Res. September 13, 2024 ; Published in Advance September 13, 2024, doi:10.1101/gr.278849.123
  5. Research: Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
    • Xavi Guitart,
    • David Porubsky,
    • DongAhn Yoo,
    • Max L. Dougherty,
    • Philip C. Dishuck,
    • Katherine M. Munson,
    • Alexandra P. Lewis,
    • Kendra Hoekzema,
    • Jordan Knuth,
    • Stephen Chang,
    • Tomi Pastinen,
    • and Evan E. Eichler
    Genome Res. August 6, 2024 ; Published in Advance August 6, 2024, doi:10.1101/gr.279299.124
    OPEN ACCESS ARTICLE
  6. Research: Long-read RNA sequencing of archival tissues reveals novel genes and transcripts associated with clear cell renal cell carcinoma recurrence and immune evasion
    • Joshua Lee,
    • Elizabeth A. Snell,
    • Joanne Brown,
    • Charlotte E. Booth,
    • Rosamonde E. Banks,
    • Daniel J. Turner,
    • Naveen S. Vasudev,
    • and Dimitris Lagos
    Genome Res. September 16, 2024 ; Published in Advance September 16, 2024, doi:10.1101/gr.278801.123
    OPEN ACCESS ARTICLE
  7. 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 1, 2024 ; Published in Advance November 1, 2024, doi:10.1101/gr.279346.124
    OPEN ACCESS ARTICLE
  8. Research: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
    • Susan M. Hiatt,
    • James M.J. Lawlor,
    • Lori H. Handley,
    • Donald R. Latner,
    • Zachary T. Bonnstetter,
    • Candice R. Finnila,
    • Michelle L. Thompson,
    • Lori Beth Boston,
    • Melissa Williams,
    • Ivan Rodriguez Nunez,
    • Jerry Jenkins,
    • Whitley V. Kelley,
    • E. Martina Bebin,
    • Michael A. Lopez,
    • Anna C.E. Hurst,
    • Bruce R. Korf,
    • Jeremy Schmutz,
    • Jane Grimwood,
    • and Gregory M. Cooper
    Genome Res. September 19, 2024 ; Published in Advance September 19, 2024, doi:10.1101/gr.279227.124
  9. 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. October 29, 2024 ; Published in Advance October 29, 2024, doi:10.1101/gr.279510.124
    OPEN ACCESS ARTICLE
  10. Research: Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
    • Jesper Eisfeldt,
    • Edward J. Higginbotham,
    • Felix Lenner,
    • Jennifer Howe,
    • Bridget A. Fernandez,
    • Anna Lindstrand,
    • Stephen W. Scherer,
    • and Lars Feuk
    Genome Res. October 29, 2024 ; Published in Advance October 29, 2024, doi:10.1101/gr.279263.124
    OPEN ACCESS ARTICLE
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