Concepedia

Noncoding Variant Interpretation

Noncoding Variant Interpretation is a computational and analytical framework in cancer genomics that identifies and characterizes the functional impact of genetic variants located in noncoding regions of the genome, distinguishing it from coding variant analysis by focusing on regulatory elements, noncoding RNAs, and epigenetic modifications that influence gene expression and contribute to oncogenesis.

35

Publications

2.8K

Citations

255

Authors

136

Institutions

Publications per year

2017–2026

22

Parents

Publications

35

A spectral approach integrating functional genomic annotations for coding and noncoding variants

Iuliana Ionita‐Laza, K. J. McCallum, Bin Xu et al. · Nature Genetics · 2016 · 683 citations

, , +16

Genome-wide analysis of noncoding regulatory mutations in cancer

Nils Weinhold, Nikolaus Schultz, Chris Sander et al. · Nature Genetics · 2014 · 520 citations · Full text

, , +14

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

Ayal B. Gussow, Brett Copeland, Ryan S. Dhindsa et al. · PLoS ONE · 2017 · 171 citations · Full text

, , +17

A 3′-untranslated region KRAS variant and triple-negative breast cancer: a case-control and genetic analysis

Trupti Paranjape, Helen Heneghan, Robert Lindner et al. · The Lancet Oncology · 2011 · 134 citations

, , +16

Chromatin accessibility landscape and regulatory network of high-altitude hypoxia adaptation

Jingxue Xin, Hui Zhang, Yaoxi He et al. · Nature Communications · 2020 · 118 citations · Full text

, , +15

1–5 of 35

Authors

255

  1. SS
    Sándor Spisák

    Semmelweis University, Hungary

    2 publications · 116 citations

    2

    h-index

  2. KL
    Kate Lawrenson

    Cedars-Sinai Medical Center, United States

    2 publications · 116 citations

    2

    h-index

  3. JS
    Ji-Heui Seo

    Dana-Farber Cancer Institute, United States

    2 publications · 116 citations

    2

    h-index

  4. VT
    Viktória Tisza

    Dana-Farber Cancer Institute, United States

    2 publications · 116 citations

    2

    h-index

  5. MM
    Mark M. Pomerantz

    Dana-Farber Cancer Institute, United States

    2 publications · 116 citations

    2

    h-index

1–5 of 255

Institutions

136

  1. Broad Institute

    Cambridge, United States

    3 h-index

    7 publications

    398 citations

  2. Harvard University

    Cambridge, United States

    3 h-index

    14 publications

    506 citations

  3. Boston Children's Hospital

    Boston, United States

    3 h-index

    4 publications

    224 citations

  4. Stanford University

    Stanford, United States

    3 h-index

    9 publications

    585 citations

  5. Heidelberg University

    Heidelberg, Germany

    2 h-index

    9 publications

    470 citations

  6. McGill University and Génome Québec Innovation Centre

    Montreal, Canada

    2 h-index

    3 publications

    167 citations

  7. Lund University

    Lund, Sweden

    2 h-index

    3 publications

    117 citations

  8. Institució Catalana de Recerca i Estudis Avançats

    Barcelona, Spain

    2 h-index

    2 publications

    42 citations

1–8 of 136

Venues

  1. Nature Genetics

    3 publications · 1.3K citations

    3

    h-index

  2. PLoS Genetics

    2 publications · 98 citations

    2

    h-index

  3. Scientific Reports

    2 publications · 114 citations

    2

    h-index

  4. Genome biology

    2 publications · 91 citations

    2

    h-index

  5. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 2 publications · 30 citations

    2

    h-index

1–5