Concepedia

Single-nucleotide Variant Detection

Single-Nucleotide Variant Detection is a molecular diagnostic method that identifies individual nucleotide alterations at specific positions within the genome during preimplantation genetic diagnosis.

267

Publications

16.1K

Citations

1.8K

Authors

572

Institutions

Publications per year

2017–2026

97

Parents

Publications

267

Sequence heterogeneities of genes encoding 16S rRNAs in Paenibacillus polymyxa detected by temperature gradient gel electrophoresis

Ulrich Nübel, Bert Engelen, Andreas Felske et al. · Journal of Bacteriology · 1996 · 1.4K citations · Full text

, , +12

Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations

Devin Dressman, Hai Yan, Giovanni Traverso et al. · Proceedings of the National Academy of Sciences · 2003 · 830 citations · Full text

, , +11

Aging and neurodegeneration are associated with increased mutations in single human neurons

Michael A. Lodato, Rachel E. Rodin, Craig L. Bohrson et al. · Science · 2017 · 655 citations · Full text

, , +17

High-throughput microfluidic single-cell RT-qPCR

Adam K. White, Michael VanInsberghe, Oleh I. Petriv et al. · Proceedings of the National Academy of Sciences · 2011 · 441 citations · Full text

, , +17

Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing

Jin Li, Lilin Wang, Harvey J. Mamon et al. · Nature Medicine · 2008 · 374 citations

, , +13

1–5 of 267

Authors

1.8K

  1. XX
    Xun Xu

    BGI Group (China), China

    4 publications · 360 citations

    4

    h-index

  2. NL
    Na Li

    Peking University, China

    4 publications · 153 citations

    4

    h-index

  3. ZG
    Zhiqiang Gao

    National University of Singapore, Singapore

    4 publications · 95 citations

    4

    h-index

  4. XS
    Xin Su

    Beijing University of Chemical Technology, China

    4 publications · 103 citations

    4

    h-index

  5. RD
    Radoje Drmanac

    Complete Genomics (United States), United States

    3 publications · 137 citations

    3

    h-index

1–5 of 1.8K

Institutions

572

  1. Peking University

    Beijing, China

    11 h-index

    48 publications

    2.9K citations

  2. National University of Singapore

    Singapore, Singapore

    10 h-index

    31 publications

    1.1K citations

  3. BGI Group (China)

    Shenzhen, China

    8 h-index

    80 publications

    7.1K citations

  4. Beijing National Laboratory for Molecular Sciences

    Beijing, China

    7 h-index

    26 publications

    1.1K citations

  5. Stanford University

    Stanford, United States

    7 h-index

    27 publications

    1.9K citations

  6. Harvard University

    Cambridge, United States

    6 h-index

    50 publications

    12K citations

  7. Massachusetts Institute of Technology

    Cambridge, United States

    5 h-index

    12 publications

    2K citations

  8. Boston Children's Hospital

    Boston, United States

    4 h-index

    32 publications

    6K citations

1–8 of 572

Venues

  1. Human Mutation

    13 publications · 620 citations

    12

    h-index

  2. Analytical Chemistry

    12 publications · 646 citations

    11

    h-index

  3. Analytical Biochemistry

    9 publications · 216 citations

    10

    h-index

  4. Clinical Chemistry

    8 publications · 371 citations

    8

    h-index

  5. Biosensors and Bioelectronics

    8 publications · 298 citations

    8

    h-index

1–5