Concepedia

Functional Variant Analysis

Functional Variant Analysis is a methodological approach in genetic research that identifies and characterizes allelic variants in innate immune genes according to their biochemical and physiological effects on gene expression, protein function, or cellular response, thereby distinguishing functionally consequential polymorphisms from neutral genetic variations.

69

Publications

8.9K

Citations

1K

Authors

338

Institutions

Publications per year

2017–2026

26

Parents

Publications

69

Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle, Eurie L. Hong, Manoj Hariharan et al. · Genome Research · 2012 · 2.9K citations · Full text

, , +17

Mouse genomic variation and its effect on phenotypes and gene regulation

Thomas Keane, Leo Goodstadt, Petr Danecek et al. · Nature · 2011 · 1.8K citations · Full text

, , +17

Durum wheat genome highlights past domestication signatures and future improvement targets

Marco Maccaferri, Neil S. Harris, Sven Twardziok et al. · Nature Genetics · 2019 · 824 citations · Full text

, , +17

A functional polymorphism in the miR-146a gene and age of familial breast/ovarian cancer diagnosis

Jie Shen, Christine B. Ambrosone, Richard A. DiCioccio et al. · Carcinogenesis · 2008 · 346 citations · Full text

, , +9

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

Indra Adrianto, Feng Wen, Amanda Templeton et al. · Nature Genetics · 2011 · 284 citations · Full text

, , +13

1–5 of 69

Authors

1K

  1. YH
    Yuki Hitomi

    The University of Tokyo, Japan

    3 publications · 43 citations

    3

    h-index

  2. ME
    Marta E. Alarcón‐Riquelme

    Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research, Spain

    3 publications · 451 citations

    3

    h-index

  3. JM
    Javier Martı́n

    Instituto de Parasitología y Biomedicina "López - Neyra", Spain

    3 publications · 352 citations

    3

    h-index

  4. MT
    Makoto Tsuiji

    The University of Tokyo, Japan

    3 publications · 43 citations

    3

    h-index

  5. KT
    Katsushi Tokunaga

    The University of Tokyo, Japan

    3 publications · 43 citations

    3

    h-index

1–5 of 1K

Institutions

338

  1. National Cancer Institute

    Bethesda, United States

    5 h-index

    17 publications

    1.2K citations

  2. National Institutes of Health

    Bethesda, United States

    4 h-index

    15 publications

    1.2K citations

  3. Johns Hopkins University

    Baltimore, United States

    4 h-index

    14 publications

    1.9K citations

  4. University of California, Los Angeles

    Los Angeles, United States

    4 h-index

    8 publications

    4.1K citations

  5. Johns Hopkins Medicine

    Baltimore, United States

    4 h-index

    14 publications

    1.9K citations

  6. Uppsala University

    Uppsala, Sweden

    4 h-index

    4 publications

    487 citations

  7. University of Oxford

    Oxford, United Kingdom

    3 h-index

    8 publications

    10.7K citations

  8. Massachusetts General Hospital

    Boston, United States

    3 h-index

    23 publications

    953 citations

1–8 of 338

Venues

  1. Scientific Reports

    4 publications · 59 citations

    4

    h-index

  2. PLoS Genetics

    4 publications · 287 citations

    4

    h-index

  3. Nature Communications

    3 publications · 156 citations

    3

    h-index

  4. PLoS ONE

    2 publications · 39 citations

    2

    h-index

  5. Molecular Genetics and Metabolism

    2 publications · 100 citations

    2

    h-index

1–5