Concepedia

Repeat Instability Analysis

Repeat Instability Analysis is a computational method within the field of genomic sequence analysis that specifically quantifies and characterizes the variation in the number or structure of tandem repeat sequences across generations or cellular divisions, thereby distinguishing itself from general repeat annotation techniques by focusing on dynamic mutational changes associated with genetic disorders and evolutionary processes.

105

Publications

7.3K

Citations

638

Authors

266

Institutions

Publications per year

2017–2026

17

Parents

Publications

105

Trinucleotide repeat length instability and age of onset in Huntington's disease

Mabel P. Duyao, C M Ambrose, Richard H. Myers et al. · Nature Genetics · 1993 · 1.1K citations

, , +12

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

Darren G. Monckton, L. Wong, Tetsuo Ashizawa et al. · Human Molecular Genetics · 1995 · 325 citations

, , +14

Instability of simple sequence DNA in Saccharomyces cerevisiae.

Samuel T. Henderson, Thomas D. Petes · Molecular and Cellular Biology · 1992 · 238 citations · Full text

, , +16

Sequence-based estimation of minisatellite and microsatellite repeat variability

Matthieu Legendre, Nathalie Pochet, Theodore R. Pak et al. · Genome Research · 2007 · 217 citations · Full text

, , +17

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

Laura Kennedy · Human Molecular Genetics · 2000 · 198 citations

, , +17

1–5 of 105

Authors

638

  1. DG
    Darren G. Monckton

    University of Glasgow, United Kingdom

    5 publications · 491 citations

    5

    h-index

  2. TA
    Tetsuo Ashizawa

    University of Florida, United States

    4 publications · 477 citations

    4

    h-index

  3. SI
    Sanjay I. Bidichandani

    University of Oklahoma Health Sciences Center, United States

    4 publications · 203 citations

    4

    h-index

  4. SL
    Stephanie L. Sherman

    Emory University, United States

    4 publications · 229 citations

    4

    h-index

  5. CK
    Christine Klein

    University of Lübeck, Germany

    3 publications · 155 citations

    3

    h-index

1–5 of 638

Institutions

266

  1. Emory University

    Atlanta, United States

    9 h-index

    22 publications

    1.9K citations

  2. Massachusetts General Hospital

    Boston, United States

    8 h-index

    60 publications

    19.9K citations

  3. Harvard University

    Cambridge, United States

    6 h-index

    24 publications

    4.9K citations

  4. University of Glasgow

    Glasgow, United Kingdom

    5 h-index

    9 publications

    580 citations

  5. Baylor College of Medicine

    Houston, United States

    5 h-index

    25 publications

    2.6K citations

  6. University of British Columbia

    Vancouver, Canada

    4 h-index

    22 publications

    1.5K citations

  7. Inserm

    Paris, France

    3 h-index

    7 publications

    1.1K citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    3 h-index

    3 publications

    281 citations

1–8 of 266

Venues

  1. Human Molecular Genetics

    20 publications · 2K citations

    20

    h-index

  2. Journal of Medical Genetics

    JMG · 5 publications · 564 citations

    5

    h-index

  3. Molecular and Cellular Biology

    MCB · 4 publications · 427 citations

    4

    h-index

  4. The EMBO Journal

    3 publications · 419 citations

    3

    h-index

  5. American Journal of Medical Genetics Part A

    3 publications · 165 citations

    3

    h-index

1–5