Concepedia

Mutation Effect Analysis

Mutation Effect Analysis is a computational or experimental methodology that identifies and characterizes the functional consequences of genetic variants on molecular, cellular, or organismal phenotypes within the context of genotype–phenotype relationships.

46

Publications

3.3K

Citations

241

Authors

123

Institutions

Publications per year

2017–2026

18

Parents

Publications

46

Mutation effects predicted from sequence co-variation

Thomas A. Hopf, John Ingraham, Frank J. Poelwijk et al. · Nature Biotechnology · 2017 · 871 citations · Full text

, , +14

The distribution of mutation effects on viability in Drosophila melanogaster.

Peter D. Keightley · Genetics · 1994 · 264 citations · Full text

, , +13

Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function

Piero Pingitore, Carlo Pirazzi, Rosellina Margherita Mancina et al. · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2013 · 213 citations · Full text

, , +16

Analyzing Effects of Naturally Occurring Missense Mutations

Zhe Zhang, Maria A. Miteva, Lin Wang et al. · Computational and Mathematical Methods in Medicine · 2012 · 167 citations · Full text

, , +15

Effect of the Genetic Background on the Phenotype of Mouse Mutations

Xavier Montagutelli · Journal of the American Society of Nephrology · 2000 · 155 citations

, , +17

1–5 of 46

Authors

241

  1. PD
    Peter D. Keightley

    University of Edinburgh, United Kingdom

    3 publications · 427 citations

    3

    h-index

  2. CS
    Charlotta Schärfe

    University of Tübingen, Germany

    2 publications · 891 citations

    2

    h-index

  3. DJ
    David Juergens

    University of Washington, United States

    2 publications · 53 citations

    2

    h-index

  4. JL
    Joseph L. Watson

    University of Washington, United States

    2 publications · 53 citations

    2

    h-index

  5. DS
    Debora S. Marks

    Harvard University, United States

    2 publications · 898 citations

    2

    h-index

1–5 of 241

Institutions

123

  1. Center for Systems Biology

    Boston, United States

    4 h-index

    19 publications

    4.7K citations

  2. Harvard University

    Cambridge, United States

    4 h-index

    22 publications

    5.6K citations

  3. University of Edinburgh

    Edinburgh, United Kingdom

    3 h-index

    3 publications

    427 citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    3 h-index

    3 publications

    71 citations

  5. University of Washington

    Seattle, United States

    3 h-index

    12 publications

    301 citations

  6. Dana-Farber Cancer Institute

    Boston, United States

    2 h-index

    7 publications

    1.9K citations

  7. University of Tübingen

    Tübingen, Germany

    2 h-index

    5 publications

    951 citations

  8. Inserm

    Paris, France

    2 h-index

    7 publications

    554 citations

1–8 of 123

Venues

  1. American Journal of Physical Anthropology

    6 publications · 239 citations

    6

    h-index

  2. Genetics

    3 publications · 427 citations

    3

    h-index

  3. Journal of Molecular Graphics and Modelling

    2 publications · 49 citations

    2

    h-index

  4. Bioinformatics

    1 publications · 14 citations

    1

    h-index

  5. PLoS Computational Biology

    1 publications · 20 citations

    1

    h-index

1–5