Concepedia

Splicing Variant Analysis

Splicing Variant Analysis is a genomic analytical method that identifies and characterizes rare disease-causing alterations in pre-mRNA splicing sequences by distinguishing pathogenic splice-disrupting variants from benign genetic polymorphisms through in silico, in vitro, or integrated multi-omics approaches.

682

Publications

31K

Citations

6.4K

Authors

1.6K

Institutions

Publications per year

2017–2026

261

Parents

Publications

682

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

André Kahles, Kjong-Van Lehmann, Nora C. Toussaint et al. · Cancer Cell · 2018 · 962 citations · Full text

, , +17

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 806 citations · Full text

, , +17

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

Philipp Rentzsch, Max Schubach, Jay Shendure et al. · Genome Medicine · 2021 · 676 citations · Full text

, , +17

A highly specific SpCas9 variant is identified by in vivo screening in yeast

Antonio Casini, Michele Olivieri, Gianluca Petris et al. · Nature Biotechnology · 2018 · 502 citations · Full text

, , +11

C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance.

Yasuo Imai, Minoru Nakane, Kumie Kage et al. · PubMed · 2002 · 441 citations

, , +17

1–5 of 682

Authors

6.4K

  1. EA
    Eladio A. Velasco

    Instituto de Biomedicina y Genética Molecular de Valladolid, Spain

    13 publications · 465 citations

    13

    h-index

  2. MD
    Miguel de la Hoya

    Hospital Clínico San Carlos, Spain

    14 publications · 497 citations

    13

    h-index

  3. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    10 publications · 539 citations

    10

    h-index

  4. AM
    Alexandra Martins

    Université de Rouen Normandie, France

    9 publications · 515 citations

    9

    h-index

  5. PP
    Pedro Pérez‐Segura

    Hospital Clínico San Carlos, Spain

    8 publications · 191 citations

    8

    h-index

1–5 of 6.4K

Institutions

1.6K

  1. Inserm

    Paris, France

    30 h-index

    258 publications

    14.3K citations

  2. Université Paris Cité

    Paris, France

    16 h-index

    47 publications

    2.8K citations

  3. University of Pennsylvania

    Philadelphia, United States

    16 h-index

    46 publications

    2.9K citations

  4. Harvard University

    Cambridge, United States

    15 h-index

    61 publications

    11K citations

  5. University of Toronto

    Toronto, Canada

    15 h-index

    92 publications

    3.3K citations

  6. Radboud University Nijmegen

    Nijmegen, The Netherlands

    15 h-index

    71 publications

    10.3K citations

  7. Centre National de la Recherche Scientifique

    Paris, France

    15 h-index

    45 publications

    2.9K citations

  8. Radboud University Medical Center

    Nijmegen, The Netherlands

    14 h-index

    70 publications

    10.3K citations

1–8 of 1.6K

Venues

  1. Human Mutation

    51 publications · 2.5K citations

    32

    h-index

  2. PLoS ONE

    18 publications · 635 citations

    17

    h-index

  3. Biochemical and Biophysical Research Communications

    BBRC · 25 publications · 815 citations

    16

    h-index

  4. Gene

    20 publications · 509 citations

    13

    h-index

  5. Journal of Medical Genetics

    JMG · 12 publications · 430 citations

    12

    h-index

1–5