Concepedia

Mitochondrial Variant Analysis

Mitochondrial Variant Analysis is a methodological framework within variant analysis that specifically identifies, characterizes, and interprets genetic variations in the mitochondrial genome, distinguished by its focus on mitochondrial DNA's unique inheritance patterns, high mutation rate, and role in cellular energy production.

183

Publications

8.3K

Citations

1.2K

Authors

503

Institutions

Publications per year

2017–2026

54

Parents

Publications

183

mtDNA Variation and Analysis Using Mitomap and Mitomaster

Marie T. Lott, Jeremy Leipzig, Olga Derbeneva et al. · Current Protocols in Bioinformatics · 2013 · 565 citations · Full text

, , +14

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

Mark J. Rieder · Nucleic Acids Research · 1998 · 508 citations · Full text

, , +17

Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients

John M. Shoffner, Michael D. Brown, Antonio Torroni et al. · Genomics · 1993 · 447 citations

, , +16

MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

Claudia Calabrese, Domenico Simone, Maria Angela Diroma et al. · Bioinformatics · 2014 · 226 citations · Full text

, , +17

The identification of mitochondrial DNA variants in glioblastoma multiforme

Ka Yu Yeung, Adam Dickinson, Jacqueline F. Donoghue et al. · Acta Neuropathologica Communications · 2014 · 203 citations · Full text

, , +17

1–5 of 183

Authors

1.2K

  1. DC
    Douglas C. Wallace

    Emory University, United States

    8 publications · 1.1K citations

    8

    h-index

  2. MG
    Min‐Xin Guan

    Cincinnati Children's Hospital Medical Center, United States

    7 publications · 287 citations

    7

    h-index

  3. VP
    Vincent Procaccio

    Inserm, France

    6 publications · 927 citations

    6

    h-index

  4. MA
    Marcella Attimonelli

    University of Bari Aldo Moro, Italy

    6 publications · 435 citations

    6

    h-index

  5. MT
    Marie T. Lott

    Emory University, United States

    6 publications · 1.4K citations

    6

    h-index

1–5 of 1.2K

Institutions

503

  1. Centre National de la Recherche Scientifique

    Paris, France

    10 h-index

    34 publications

    1.3K citations

  2. University of Pennsylvania

    Philadelphia, United States

    8 h-index

    28 publications

    1.7K citations

  3. Children's Hospital of Philadelphia

    Philadelphia, United States

    8 h-index

    41 publications

    5.7K citations

  4. Zhejiang University

    Hangzhou, China

    7 h-index

    35 publications

    1.3K citations

  5. University of Bari Aldo Moro

    Bari, Italy

    7 h-index

    26 publications

    2.7K citations

  6. Inserm

    Paris, France

    6 h-index

    45 publications

    1.4K citations

  7. Harvard University

    Cambridge, United States

    6 h-index

    35 publications

    9.1K citations

  8. University of California, Irvine

    Irvine, United States

    6 h-index

    20 publications

    1.9K citations

1–8 of 503

Venues

  1. Human Mutation

    11 publications · 702 citations

    11

    h-index

  2. PLoS ONE

    10 publications · 353 citations

    10

    h-index

  3. Mitochondrion

    8 publications · 404 citations

    8

    h-index

  4. Nucleic Acids Research

    5 publications · 701 citations

    5

    h-index

  5. PubMed

    Repository · 6 publications · 178 citations

    5

    h-index

1–5