Searching journal content for articles similar to Blaschke and Rappold 7 (12): 1114.

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  1. REVIEW: The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases
    • Karen Usdin
    Genome Res. July 2008 18: 1011-1019; doi:10.1101/gr.070409.107
    ...The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases Karen Usdin 1 Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National...
  2. REVIEW: Lessons learned, promises kept: a biologist's eye view of the Genome Project.
    • S M Tilghman
    Genome Res. September 1996 6: 773-780; doi:10.1101/gr.6.9.773
    ...S Tilghman Tilghman S M Tilghman Tilghman, S S M Tilghman Tilghman, S.M Tilghman, SM Tilghman, S M S M S.M. Tilghman SM Tilghman S M, Tilghman 10.1101/gr.6.9.773 genome;6/9/773 1088-9051 Lessons learned, promises kept: a biologist's eye view of the Genome Project. Lessons learned, promises kept...
  3. Mini-Review: A Hitchhiker's Guide to long-read genomic analysis
    • Medhat Mahmoud,
    • Daniel P. Agustinho,
    • and Fritz J. Sedlazeck
    Genome Res. April 2025 35: 545-558; doi:10.1101/gr.279975.124
    ...expected per human (The 1000 Genomes Project Consortium 2015). Tools that detect SNVs and indels are broadly categorized into two major approaches: traditional statistical methods and machine learning-based techniques. An example of a statistical method is Longshot, which utilizes the Pair-Hidden Markov...
  4. Research: Telomerase-independent survival leads to a mosaic of complex subtelomere rearrangements in Chlamydomonas reinhardtii
    • Frédéric Chaux,
    • Nicolas Agier,
    • Clotilde Garrido,
    • Gilles Fischer,
    • Stephan Eberhard,
    • and Zhou Xu
    Genome Res. September 2023 33: 1582-1598; Published in Advance August 14, 2023, doi:10.1101/gr.278043.123
    ...Corresponding author: zhou.xu@sorbonne-universite.frAbstractTelomeres and subtelomeres, the genomic regions located at chromosome extremities, are essential for stability in eukaryotes. In the absence of the canonical maintenance mechanism provided by telomerase, telomere shortening induces instability...
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  5. In memoriam: Haig H. Kazazian, Jr. (1937–2022)
    • Stylianos E. Antonarakis and
    • Stuart H. Orkin
    Genome Res. April 2022 32: v-vi; Published in Advance March 21, 2022, doi:10.1101/gr.276712.122
    ...establishment of the HapMap Project (The International HapMap Consortium 2005).Early on, the beta globin gene occupied a special place in the field of human genetics and genomics since many of the lessons learned regarding the diversity of pathogenic variants stem from the hemoglobinopathies. The Kazazian...
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  6. 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
    ...Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1 Edward J. Hollox 1 , 4 , John C.K. Barber 2 , Anthony J. Brookes 1 , and John A.L. Armour 3 1 Department of Genetics...
  7. REVIEW: A Phenotype Map of the Mouse X Chromosome: Models for Human X-linked Disease
    • Yvonne Boyd,
    • Helen J. Blair,
    • Pamela Cunliffe,
    • Walter K. Masson,
    • and Vivienne Reed
    Genome Res. March 1, 2000 10: 277-292; doi:10.1101/gr.10.3.277
    ...and lactic acidosis. Hum. Mol. Genet. 7: 549–555. Blair, H.J., I.C. Uwechue, G.S. Barsh, P.S.N. Rowe, and Y. Boyd. 1998b. An integrated genetic and man-mouse comparative map of the DXHXS674-Pdha1 region of the mouse X chromosome. Genomics 48: 128–131. Blaschke, R.J. and G.A. Rappold. 1997. Man to mouse—lessons...
  8. LETTER: Differential Divergence of Three Human Pseudoautosomal Genes and Their Mouse Homologs: Implications for Sex Chromosome Evolution
    • Fernando Gianfrancesco,
    • Remo Sanges,
    • Teresa Esposito,
    • Sergio Tempesta,
    • Ercole Rao,
    • Gudrun Rappold,
    • Nicoletta Archidiacono,
    • Jennifer A.M. Graves,
    • Antonino Forabosco,
    • and Michele D'Urso
    Genome Res. December 1, 2001 11: 2095-2100; doi:10.1101/gr.197001
    .... PCR Methods Appl. 2 : 234 – 240 . ↵ Blaschke R. , Rappold G.A. ( 1997 ) Man to mouse — lessons learned from the distal end of the human X chromosome. Genome Res. 7 : 1114 – 1117 . ↵ Charlesworth B. ( 1990 ) Mutation-selection balance and the evolutionary advantage of sex and recombination. Genet. Res...
  9. Resource: Transposable element variants and their potential adaptive impact in urban populations of the malaria vector Anopheles coluzzii
    • Carlos Vargas-Chavez,
    • Neil Michel Longo Pendy,
    • Sandrine E. Nsango,
    • Laura Aguilera,
    • Diego Ayala,
    • and Josefa González
    Genome Res. January 2022 32: 189-202; Published in Advance December 29, 2021, doi:10.1101/gr.275761.121
    ...for its control.At the molecular level, several genetic mechanisms have been related back to the adaptive capacity of An. coluzzii. The most prominent and historically studied are chromosomal inversions (Coluzzi et al. 2002; Ayala et al. 2017). An. coluzzii shows a large number of polymorphic inversions...
  10. Research: Cis-acting variation is common across regulatory layers but is often buffered during embryonic development
    • Swann Floc'hlay,
    • Emily S. Wong,
    • Bingqing Zhao,
    • Rebecca R. Viales,
    • Morgane Thomas-Chollier,
    • Denis Thieffry,
    • David A. Garfield,
    • and Eileen E.M. Furlong
    Genome Res. February 2021 31: 211-224; Published in Advance December 11, 2020, doi:10.1101/gr.266338.120
    ...the parental lines of one cross, forming a parent/offspring trio that allowed us to partition genetic differences between the parents into cis and trans (Wittkopp et al. 2004), defined here as genetic variation that affects the linked alleles of features on the same chromosome (cis) versus variation...
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