Concepedia

Structural Variant Phasing

Structural Variant Phasing is the computational process of determining the haplotype-specific arrangement of structural variants within a diploid or polyploid genome, enabling the assignment of variant alleles to their respective chromosomal homologs.

3

Publications

141

Citations

17

Authors

4

Institutions

Publications per year

2017–2026

2

Parents

Publications

3

Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures

R. Michael Sivley, Xiaoyi Dou, Jens Meiler et al. · The American Journal of Human Genetics · 2018 · 84 citations · Full text

, , +10

HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing

James Holt, Christopher T. Saunders, William J. Rowell et al. · Bioinformatics · 2024 · 43 citations · Full text

, , +14

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

Griet De Clercq, Lies Vantomme, Barbara Dewaele et al. · Scientific Reports · 2024 · 19 citations · Full text

, , +17

Complete Genome Phasing of Family Quartet by Combination of Genetic, Physical and Population-Based Phasing Analysis

Julien Lajugie, Rituparna Mukhopadhyay, Michael Schizas et al. · PLoS ONE · 2013 · 14 citations · Full text

, , +17

1–4 of 3

Authors

17

  1. XD
    Xiaoyi Dou

    University of Georgia, United States

    1 publications · 84 citations

    1

    h-index

  2. CT
    Christopher T. Saunders

    Illumina (United States), United States

    1 publications · 43 citations

    1

    h-index

  3. JH
    James Holt

    HudsonAlpha Institute for Biotechnology, United States

    1 publications · 43 citations

    1

    h-index

  4. NF
    Nicolas Fourel

    Albert Einstein College of Medicine, United States

    1 publications · 14 citations

    1

    h-index

  5. RM
    Rituparna Mukhopadhyay

    Uppsala University, Sweden

    1 publications · 14 citations

    1

    h-index

1–5 of 17

Institutions

4

  1. Pacific Biosciences (United States)

    Menlo Park, United States

    1 h-index

    6 publications

    258 citations

  2. Vanderbilt University

    Nashville, United States

    1 h-index

    4 publications

    336 citations

  3. Albert Einstein College of Medicine

    Bronx, United States

    1 h-index

    6 publications

    84 citations

  4. Case Western Reserve University

    Cleveland, United States

    1 h-index

    1 publications

    84 citations

  5. Ghent University Hospital

    Ghent, Belgium

    1 publications

    19 citations

  6. HOGENT University of Applied Sciences and Arts

    Ghent, Belgium

    1 publications

    19 citations

  7. VIB-UAntwerp Center for Molecular Neurology

    Antwerp, Belgium

    1 publications

    19 citations

  8. Ghent University

    Ghent, Belgium

    1 publications

    19 citations

1–8 of 4

Venues

  1. The American Journal of Human Genetics

    AJHG · 1 publications · 84 citations

    1

    h-index

  2. Bioinformatics

    1 publications · 43 citations

    1

    h-index

  3. PLoS ONE

    1 publications · 14 citations

    1

    h-index

  4. Scientific Reports

    1 publications · 19 citations

1–4