Concepedia

Splice Variant Interpretation

Splice Variant Interpretation is a computational and analytical method within germline variant interpretation that specifically identifies and assesses the functional impact of genetic variants affecting RNA splicing mechanisms, distinguishing it from other variant interpretation approaches by its focus on splice site disruption, splice regulatory elements, and aberrant transcript isoform prediction.

225

Publications

11.7K

Citations

1.8K

Authors

588

Institutions

Publications per year

2017–2026

69

Variants

Splicing Variant Interpretation

Parents

Publications

225

AceView: a comprehensive cDNA-supported gene and transcripts annotation

Danielle Thierry‐Mieg, Jean Thierry‐Mieg · Genome biology · 2006 · 643 citations · Full text

, , +17

APPRIS: annotation of principal and alternative splice isoforms

José Manuel Rodrı́guez, Paolo Maietta, Iakes Ezkurdia et al. · Nucleic Acids Research · 2012 · 273 citations · Full text

, , +17

SpliceSeq: a resource for analysis and visualization of RNA-Seq data on alternative splicing and its functional impacts

Michaël Ryan, James Cleland, RyangGuk Kim et al. · Bioinformatics · 2012 · 248 citations · Full text

, , +17

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Claude Houdayer, Virginie Caux‐Moncoutier, Sophie Krieger et al. · Human Mutation · 2012 · 240 citations

, , +17

Alternative splice variants of the human PD-1 gene

Christian Nielsen, Line Ohm‐Laursen, Torben Barington et al. · Cellular Immunology · 2005 · 233 citations

, , +11

1–5 of 225

Authors

1.8K

  1. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    8 publications · 481 citations

    8

    h-index

  2. PK
    Peter K. Rogan

    Western University, Canada

    6 publications · 221 citations

    6

    h-index

  3. CH
    Claude Houdayer

    Institut Curie, France

    5 publications · 492 citations

    5

    h-index

  4. SG
    Sara Gutiérrez‐Enríquez

    Vall d'Hebron Institute of Oncology, Spain

    5 publications · 179 citations

    5

    h-index

  5. AS
    Andreas Scorilas

    National and Kapodistrian University of Athens, Greece

    5 publications · 84 citations

    5

    h-index

1–5 of 1.8K

Institutions

588

  1. Inserm

    Paris, France

    10 h-index

    71 publications

    5.9K citations

  2. Johns Hopkins University

    Baltimore, United States

    8 h-index

    57 publications

    3.1K citations

  3. QIMR Berghofer Medical Research Institute

    Brisbane, Australia

    7 h-index

    17 publications

    789 citations

  4. Hospices Civils de Lyon

    Lyon, France

    6 h-index

    17 publications

    940 citations

  5. University of Michigan

    Ann Arbor, United States

    6 h-index

    16 publications

    1.3K citations

  6. Université Paris Cité

    Paris, France

    6 h-index

    9 publications

    1K citations

  7. National Institutes of Health

    Bethesda, United States

    6 h-index

    17 publications

    2.3K citations

  8. University of Southampton

    Southampton, United Kingdom

    6 h-index

    28 publications

    3K citations

1–8 of 588

Venues

  1. Human Mutation

    17 publications · 989 citations

    15

    h-index

  2. Gene

    8 publications · 211 citations

    8

    h-index

  3. Biochemical and Biophysical Research Communications

    BBRC · 8 publications · 355 citations

    8

    h-index

  4. Nucleic Acids Research

    7 publications · 777 citations

    7

    h-index

  5. Bioinformatics

    7 publications · 612 citations

    7

    h-index

1–5