Searching journal content for articles similar to Yellaboina et al. 17 (4): 527.

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  1. Research: A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice
    • Mikhail O. Maksimov,
    • Cynthia Wu,
    • David G. Ashbrook,
    • Flavia Villani,
    • Vincenza Colonna,
    • Nima Mousavi,
    • Nichole Ma,
    • Lu Lu,
    • Jonathan K. Pritchard,
    • Alon Goren,
    • Robert W. Williams,
    • Abraham A. Palmer,
    • and Melissa Gymrek
    Genome Res. May 2023 33: 689-702; Published in Advance May 1, 2023, doi:10.1101/gr.277576.122
    ...and Systems Biology Program, University of California San Diego, La Jolla, California 92093, USA; 4Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA; 5Institute of Genetics and Biophysics, National Research Council, Naples 80111...
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  2. REVIEW: Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1
    • Edward J. Hollox,
    • John C.K. Barber,
    • Anthony J. Brookes,
    • and John A.L. Armour
    Genome Res. November 2008 18: 1686-1697; doi:10.1101/gr.080945.108
    ..., University of Nottingham, Nottingham NG7 2RD, United Kingdom Abstract Over the past four years, genome-wide studies have uncovered numerous examples of structural variation in the human genome. This includes structural variation that changes copy number, such as deletion and duplication...
  3. LETTER: Whole-genome maps of USF1 and USF2 binding and histone H3 acetylation reveal new aspects of promoter structure and candidate genes for common human disorders
    • Alvaro Rada-Iglesias,
    • Adam Ameur,
    • Philipp Kapranov,
    • Stefan Enroth,
    • Jan Komorowski,
    • Thomas R. Gingeras,
    • and Claes Wadelius
    Genome Res. March 2008 18: 380-392; Published in Advance January 29, 2008, doi:10.1101/gr.6880908
    ...TSSs. After taking into account this promoter conformation, the results indicate that H3ac is mainly located downstream of TSS, and it is at this genomic location where it positively correlates with gene expression. Finally, USF1, which is associated to familial combined hyperlipidemia, was found...
  4. Research: Rates and spectra of de novo structural mutations in Chlamydomonas reinhardtii
    • Eugenio López-Cortegano,
    • Rory J. Craig,
    • Jobran Chebib,
    • Eniolaye J. Balogun,
    • and Peter D. Keightley
    Genome Res. January 2023 33: 45-60; Published in Advance December 12, 2022, doi:10.1101/gr.276957.122
    ...suggest that SMs, including those that could have functional consequences, occur at a rate approximately 10-fold lower than the rate of SNMs and indels combined, yet their rates of occurrence are highly variable between strains. The broader improvements to short mutation detection brought by PacBio Hi...
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  5. Research: The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes
    • Stephen B. Montgomery,
    • David L. Goode,
    • Erika Kvikstad,
    • Cornelis A. Albers,
    • Zhengdong D. Zhang,
    • Xinmeng Jasmine Mu,
    • Guruprasad Ananda,
    • Bryan Howie,
    • Konrad J. Karczewski,
    • Kevin S. Smith,
    • Vanessa Anaya,
    • Rhea Richardson,
    • Joe Davis,
    • The 1000 Genomes Project Consortium,
    • Daniel G. MacArthur,
    • Arend Sidow,
    • Laurent Duret,
    • Mark Gerstein,
    • Kateryna D. Makova,
    • Jonathan Marchini,
    • Gil McVean,
    • and Gerton Lunter
    Genome Res. May 2013 23: 749-761; Published in Advance March 11, 2013, doi:10.1101/gr.148718.112
    ...nucleotides undergo stronger purifying selection. We further find that indels are enriched in associations with gene expression and find evidence for a contribution of nonsense-mediated decay. Finally, we show that indels can be integrated in existing genome-wide association studies (GWAS); although we do...
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  6. Method: Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort
    • Christopher M. Vockley,
    • Cong Guo,
    • William H. Majoros,
    • Michael Nodzenski,
    • Denise M. Scholtens,
    • M. Geoffrey Hayes,
    • William L. Lowe, Jr.,
    • and Timothy E. Reddy
    Genome Res. August 2015 25: 1206-1214; Published in Advance June 17, 2015, doi:10.1101/gr.190090.115
    ...element activity at the population scale. The approach combines targeted DNA capture with a high-throughput reporter gene expression assay. As demonstration, we measured the activity of more than 100 putative regulatory elements from 95 individuals in a single experiment. In agreement with previous...
  7. Research: Hominoid fission of chromosome 14/15 and the role of segmental duplications
    • Giuliana Giannuzzi,
    • Michele Pazienza,
    • John Huddleston,
    • Francesca Antonacci,
    • Maika Malig,
    • Laura Vives,
    • Evan E. Eichler,
    • and Mario Ventura
    Genome Res. November 2013 23: 1763-1773; Published in Advance September 27, 2013, doi:10.1101/gr.156240.113
    .... Nature 409: 953–958. Dennehey BK, Gutches DG, McConkey EH, Krauter KS. 2004. Inversion, duplication, and changes in gene context are associated with human chromosome 18 evolution. Genomics 83: 493–501. Dillon N, Festenstein R. 2002. Unravelling heterochromatin: Competition between positive and negative...
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