Searching journal content for articles similar to Hollox et al. 18 (11): 1686.

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  1. REVIEW: Copy number variation: New insights in genome diversity
    • Jennifer L. Freeman,
    • George H. Perry,
    • Lars Feuk,
    • Richard Redon,
    • Steven A. McCarroll,
    • David M. Altshuler,
    • Hiroyuki Aburatani,
    • Keith W. Jones,
    • Chris Tyler-Smith,
    • Matthew E. Hurles,
    • Nigel P. Carter,
    • Stephen W. Scherer,
    • and Charles Lee
    Genome Res. August 2006 16: 949-961; Published in Advance June 29, 2006, doi:10.1101/gr.3677206
    ...; 7 Genome Science Division, University of Tokyo, Tokyo, 153-8904 Japan; 8 Molecular Genetics Division, Affymetrix, Inc., Santa Clara, California 95051, USA Abstract DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders...
  2. LETTER: Copy number variation at the breakpoint region of isochromosome 17q
    • Claudia M.B. Carvalho and
    • James R. Lupski
    Genome Res. November 2008 18: 1724-1732; Published in Advance August 19, 2008, doi:10.1101/gr.080697.108
    ...(CGH) data on the REPA/B region across the HapMap samples. The results revealed the high frequency of variation existent at the REPA/B loci worldwide. Such numbers, however, do not elucidate how the structure can be genomically organized. Thus, we selected bacterial artificial chromosome (BAC) clones...
  3. Method: Characterizing polymorphic inversions in human genomes by single-cell sequencing
    • Ashley D. Sanders,
    • Mark Hills,
    • David Porubský,
    • Victor Guryev,
    • Ester Falconer,
    • and Peter M. Lansdorp
    Genome Res. November 2016 26: 1575-1587; Published in Advance July 29, 2016, doi:10.1101/gr.201160.115
    ...their distinct inversion profiles and built a nonredundant global reference of structural rearrangements in the human genome. The work described here provides a powerful new framework to study structural variation and genomic heterogeneity in single-cell samples, whether from individuals for population studies...
  4. Method: The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism
    • Maximilian P.A. Salm,
    • Stuart D. Horswell,
    • Claire E. Hutchison,
    • Helen E. Speedy,
    • Xia Yang,
    • Liming Liang,
    • Eric E. Schadt,
    • William O. Cookson,
    • Anthony S. Wierzbicki,
    • Rossi P. Naoumova,
    • and Carol C. Shoulders
    Genome Res. June 2012 22: 1144-1153; Published in Advance March 7, 2012, doi:10.1101/gr.126037.111
    ...that the 8p23.1 inversion is an evolutionarily dynamic structure that can now be accommodated into the understanding of human genetic and phenotypic diversity. [Supplemental material is available for this article.] Genomic inversions are a ubiquitous class of structural variation, implicated in speciation...
  5. Research: The altered landscape of the human skin microbiome in patients with primary immunodeficiencies
    • Julia Oh,
    • Alexandra F. Freeman,
    • NISC Comparative Sequencing Program,
    • Morgan Park,
    • Robert Sokolic,
    • Fabio Candotti,
    • Steven M. Holland,
    • Julia A. Segre,
    • and Heidi H. Kong
    Genome Res. December 2013 23: 2103-2114; Published in Advance October 29, 2013, doi:10.1101/gr.159467.113
    .... The microbiome of healthy human skin shows significant topographical variation between sebaceous, dry, and moist microenvironments. Likewise, the temporal stability of bacterial community membership and structure varies by skin site (Costello et al. 2009; Grice et al. 2009; The Human Microbiome Project...
  6. LETTER: Finding cis-regulatory elements using comparative genomics: Some lessons from ENCODE data
    • David C. King,
    • James Taylor,
    • Ying Zhang,
    • Yong Cheng,
    • Heather A. Lawson,
    • Joel Martin,
    • ENCODE groups for Transcriptional Regulation and Multispecies Sequence Analysis,
    • Francesca Chiaromonte,
    • Webb Miller,
    • and Ross C. Hardison
    Genome Res. June 2007 17: 775-786; doi:10.1101/gr.5592107
    ...Finding cis -regulatory elements using comparative genomics: Some lessons from ENCODE data David C. King 1 , 2 , 7 , James Taylor 1 , 3 , 7 , Ying Zhang 1 , 2 , Yong Cheng 1 , 2 , Heather A. Lawson 1 , 4 , Joel Martin 1...
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  7. Article: Meiotic recombination generates rich diversity in NK cell receptor genes, alleles, and haplotypes
    • Paul J. Norman,
    • Laurent Abi-Rached,
    • Ketevan Gendzekhadze,
    • John A. Hammond,
    • Achim K. Moesta,
    • Deepti Sharma,
    • Thorsten Graef,
    • Karina L. McQueen,
    • Lisbeth A. Guethlein,
    • Christine V.F. Carrington,
    • Dasdayanee Chandanayingyong,
    • Yih-Hsin Chang,
    • Catalina Crespí,
    • Güher Saruhan-Direskeneli,
    • Kamran Hameed,
    • Giorgi Kamkamidze,
    • Kwadwo A. Koram,
    • Zulay Layrisse,
    • Nuria Matamoros,
    • Joan Milà,
    • Myoung Hee Park,
    • Ramasamy M. Pitchappan,
    • D. Dan Ramdath,
    • Ming-Yuh Shiau,
    • Henry A.F. Stephens,
    • Siske Struik,
    • Dolly Tyan,
    • David H. Verity,
    • Robert W. Vaughan,
    • Ronald W. Davis,
    • Patricia A. Fraser,
    • Eleanor M. Riley,
    • Mostafa Ronaghi,
    • and Peter Parham
    Genome Res. May 2009 19: 757-769; doi:10.1101/gr.085738.108
    .... S2). The genomic location of 3DL1/2v between 2DL4 and FCAR is the same as that observed for Pt-KIR3DL1/2, the single chimpanzee lineage II KIR gene (Rajalingam et al. 2004; Sambrook et al. 2005), which has structural and functional properties in common with both human 3DL1 and 3DL2 (Khakoo et al...
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