Searching journal content for articles similar to Hiatt et al. 23 (5): 843.

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  1. Review: Leveraging the power of long reads for targeted sequencing
    • Shruti V. Iyer,
    • Sara Goodwin,
    • and William Richard McCombie
    Genome Res. November 2024 34: 1701-1718; doi:10.1101/gr.279168.124
    ...-read sequencing on the highest throughput short-read instruments; thus, achieving sufficient coverage to detect low-frequency variants (such as somatic variation) in heterogenous samples remains challenging. Targeted sequencing, on the other hand, provides the depth necessary to detect these low-frequency...
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  2. Research: Massive variation of short tandem repeats with functional consequences across strains of Arabidopsis thaliana
    • Maximilian O. Press,
    • Rajiv C. McCoy,
    • Ashley N. Hall,
    • Joshua M. Akey,
    • and Christine Queitsch
    Genome Res. August 2018 28: 1169-1178; Published in Advance July 3, 2018, doi:10.1101/gr.231753.117
    ...repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Res 25: 1591–1599. ↵Boyle EA, O'Roak BJ, Martin BK, Kumar A, Shendure J. 2014. MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing. Bioinformatics 30: 2670...
  3. Method: MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals
    • Keisha D. Carlson,
    • Peter H. Sudmant,
    • Maximilian O. Press,
    • Evan E. Eichler,
    • Jay Shendure,
    • and Christine Queitsch
    Genome Res. May 2015 25: 750-761; Published in Advance February 6, 2015, doi:10.1101/gr.182212.114
    ...and somatic STR variation through targeted capture, sequencing, and a novel mapping strategy. (A) Single-molecule molecular inversion probe (smMIP) with common backbone for PCR primer binding (dark-green; also shown, PCR and sequencing primers with arrows and purple sequencing adapters); 12 base pair...
  4. 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
    ...years has revolutionized our ability to catalog cancer risk variants and understand the genomic landscape of cancer. Early studies relied on targeted sequencing and microarrays to detect genomic and transcriptomic variations enriched in cancer patients, revealing, for example, the prevalence...
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  5. Research: Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
    • Geoffrey J. Maher,
    • Hannah K. Ralph,
    • Zhihao Ding,
    • Nils Koelling,
    • Hana Mlcochova,
    • Eleni Giannoulatou,
    • Pawan Dhami,
    • Dirk S. Paul,
    • Stefan H. Stricker,
    • Stephan Beck,
    • Gilean McVean,
    • Andrew O.M. Wilkie,
    • and Anne Goriely
    Genome Res. December 2018 28: 1779-1790; Published in Advance October 24, 2018, doi:10.1101/gr.239186.118
    ...in 67 genes (51.5 kb in total) in 276 biopsies of testes from five men (median age, 83 yr). Following ultradeep sequencing (about 16,000×), development of a low-frequency variant prioritization strategy, and targeted validation, we identified 61 distinct variants present at frequencies as low as 0...
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  6. Method: High resolution mapping of modified DNA nucleobases using excision repair enzymes
    • D. Suzi Bryan,
    • Monica Ransom,
    • Biniam Adane,
    • Kerri York,
    • and Jay R. Hesselberth
    Genome Res. September 2014 24: 1534-1542; Published in Advance July 11, 2014, doi:10.1101/gr.174052.114
    .... 2013. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res 23: 843–854. Hoffman MM, Buske OJ, Wang J, Weng Z, Bilmes JA, Noble WS. 2012. Unsupervised pattern discovery in human chromatin structure through genomic segmentation. Nat...
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