Concepedia

Haplotype-based Variant Detection

Haplotype-Based Variant Detection is a variant detection method that identifies genetic variants by analyzing contiguous sequences of alleles inherited together on a single chromosome, thereby leveraging haplotype structure to improve accuracy and resolve ambiguous variants compared to individual nucleotide-based approaches.

78

Publications

7.5K

Citations

481

Authors

208

Institutions

Publications per year

2017–2026

19

Parents

Publications

78

Haplotype-based variant detection from short-read sequencing

Erik Garrison, Gábor Marth · arXiv (Cornell University) · 2012 · 4.1K citations · Full text

, , +17

Efficient discovery of DNA polymorphisms in natural populations by Ecotilling

Luca Comai, Kim Young, Bradley J. Till et al. · The Plant Journal · 2004 · 447 citations

, , +17

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

Tiffany Cheng, SH Orkin, Stylianos E. Antonarakis et al. · Proceedings of the National Academy of Sciences · 1984 · 168 citations · Full text

, , +16

Digital genotyping and haplotyping with polymerase colonies

Robi D. Mitra, Vincent L. Butty, Jay Shendure et al. · Proceedings of the National Academy of Sciences · 2003 · 150 citations

, , +17

Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

Haig H. Kazazian, Stuart H. Orkin, Alexander F. Markham et al. · Nature · 1984 · 147 citations

, , +15

1–5 of 78

Authors

481

  1. RA
    Richard A. Gatti

    University of California, Los Angeles, United States

    3 publications · 147 citations

    3

    h-index

  2. MG
    Melissa Gymrek

    University of California San Diego, United States

    3 publications · 98 citations

    3

    h-index

  3. RA
    Rafael Aldana

    Sentieon (United States), United States

    3 publications · 114 citations

    3

    h-index

  4. JD
    Johannes Dapprich

    Generation Biotech (United States), United States

    2 publications · 39 citations

    2

    h-index

  5. HJ
    Habi Joseph

    University of California San Diego, United States

    2 publications · 88 citations

    2

    h-index

1–5 of 481

Institutions

208

  1. Karolinska Institutet

    Stockholm, Sweden

    3 h-index

    6 publications

    201 citations

  2. University of California, Los Angeles

    Los Angeles, United States

    3 h-index

    14 publications

    776 citations

  3. National Institutes of Health

    Bethesda, United States

    3 h-index

    16 publications

    655 citations

  4. Stanford University

    Stanford, United States

    3 h-index

    6 publications

    171 citations

  5. Harvard University

    Cambridge, United States

    3 h-index

    12 publications

    1.2K citations

  6. Johns Hopkins University

    Baltimore, United States

    3 h-index

    20 publications

    1.4K citations

  7. Sentieon (United States)

    Mountain View, United States

    3 h-index

    7 publications

    295 citations

  8. Illumina (United States)

    San Diego, United States

    2 h-index

    4 publications

    176 citations

1–8 of 208

Venues

  1. Human Mutation

    7 publications · 284 citations

    7

    h-index

  2. Nucleic Acids Research

    5 publications · 144 citations

    5

    h-index

  3. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 4 publications · 99 citations

    4

    h-index

  4. The American Journal of Human Genetics

    AJHG · 4 publications · 268 citations

    4

    h-index

  5. PubMed

    Repository · 3 publications · 188 citations

    3

    h-index

1–5