Searching journal content for articles similar to Li et al. 31 (4): 529.

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  1. Perspective: Unraveling the hidden complexity of cancer through long-read sequencing
    • Qiuhui Li,
    • Ayse G. Keskus,
    • Justin Wagner,
    • Michal B. Izydorczyk,
    • Winston Timp,
    • Fritz J. Sedlazeck,
    • Alison P. Klein,
    • Justin M. Zook,
    • Mikhail Kolmogorov,
    • and Michael C. Schatz
    Genome Res. April 2025 35: 599-620; Published in Advance March 20, 2025, doi:10.1101/gr.280041.124
    ...14 putative pathogenic SNVs and indels, uncovered newly identified SINE-R/VNTR/Alu elements affecting the APC gene in two familial adenomatous polyposis patients, and demonstrated the utility of off-target reads from adaptive sampling for SNP genotyping, enabling polygenic risk score calculations...
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  2. Method: Genome skimming with nanopore sequencing precisely determines global and transposon DNA methylation in vertebrates
    • Christopher Faulk
    Genome Res. June 2023 33: 948-956; Published in Advance July 13, 2023, doi:10.1101/gr.277743.123
    ...JH, Mazur CA, Berisa T, Pickrell JK. 2021. Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays. Genome Res 31: 529–537. doi:10.1101/gr.266486.120 ↵Longchamps RJ, Castellani CA, Yang SY, Newcomb CE, Sumpter JA, Lane J...
  3. Method: Pangenome-based genome inference using integer programming
    • Ghanshyam Chandra,
    • Md Helal Hossen,
    • Stephan Scholz,
    • Alexander T. Dilthey,
    • Daniel Gibney,
    • and Chirag Jain
    Genome Res. December 2025 35: 2661-2670; Published in Advance August 21, 2025, doi:10.1101/gr.280567.125
    ...increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays. Genome Res 31: 529–537. doi:10.1101/gr.266486.120 ↵Liao WW, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas JK, Monlong J, Abel HJ, et al. 2023. A draft human pan reference. Nature...
  4. Method: Minimizing reference bias with an imputed personalized reference
    • Kavya Vaddadi,
    • Mao-Jan Lin,
    • Sina Majidian,
    • Taher Mun,
    • and Ben Langmead
    Genome Res. March 5, 2026 gr.280989.125; Published in Advance March 5, 2026, doi:10.1101/gr.280989.125
    ...diploid genotypes based on SNP genotyping array data. By contrast, our work performs personalization based on the input (sequencing) dataset itself and does not require a second dataset. Importantly, none of the above tools use efficient imputation methods like Glimpse (Rubinacci et al. 2021), which uses...
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