Concepedia

Population Frequency Analysis

Population Frequency Analysis is a methodological framework within variant interpretation that quantifies the prevalence of genetic variants across populations to distinguish pathogenic mutations from benign polymorphisms based on their allele frequencies.

1.5K

Publications

74.9K

Citations

7.4K

Authors

2K

Institutions

Publications per year

2017–2026

179

Parents

Publications

1.5K

THE POPULATION FREQUENCIES OF SPECIES AND THE ESTIMATION OF POPULATION PARAMETERS

I. J. Good · Biometrika · 1953 · 3.3K citations

, , +11

DISTRIBUTION OF GENE FREQUENCY AS A TEST OF THE THEORY OF THE SELECTIVE NEUTRALITY OF POLYMORPHISMS

Richard C Lewontin, Jesse Krakauer · Genetics · 1973 · 1.2K citations · Full text

, , +13

A simple new method for estimating null allele frequency from heterozygote deficiency

J. F. Y. BROOKFIELD · Molecular Ecology · 1996 · 1.2K citations

, , +10

Haplotype Variation and Linkage Disequilibrium in 313 Human Genes

Jonathan Stephens, Julie A. Schneider, Debra A. Tanguay et al. · Science · 2001 · 875 citations

, , +16

Metabolic gene polymorphism frequencies in control populations.

Seymour Garte, Laura Gaspari, Anna-Karin Alexandrie et al. · PubMed · 2001 · 847 citations

, , +13

1–5 of 1.5K

Authors

7.4K

  1. BB
    Bruce Budowle

    University of North Texas, United States

    14 publications · 561 citations

    12

    h-index

  2. ÃC
    Ángel Carracedo

    Universidade de Santiago de Compostela, Spain

    10 publications · 858 citations

    10

    h-index

  3. IB
    Ignacio Blanco

    Hospital Valle del Nalón, Spain

    10 publications · 733 citations

    10

    h-index

  4. GL
    G Lucotte

    International Institute of Anthropology, France

    9 publications · 260 citations

    9

    h-index

  5. MA
    Marco A. Zago

    Universidade de São Paulo, Brazil

    9 publications · 355 citations

    9

    h-index

1–5 of 7.4K

Institutions

2K

  1. National Institutes of Health

    Bethesda, United States

    19 h-index

    59 publications

    7.5K citations

  2. Inserm

    Paris, France

    16 h-index

    62 publications

    4.2K citations

  3. University of Michigan

    Ann Arbor, United States

    16 h-index

    57 publications

    2.9K citations

  4. Federal Bureau of Investigation

    Washington, United States

    14 h-index

    37 publications

    1.8K citations

  5. Harvard University

    Cambridge, United States

    14 h-index

    38 publications

    1.8K citations

  6. Sheba Medical Center

    Ramat Gan, Israel

    13 h-index

    53 publications

    4.7K citations

  7. University College London

    London, United Kingdom

    13 h-index

    32 publications

    2K citations

  8. Universidade do Porto

    Porto, Portugal

    12 h-index

    32 publications

    870 citations

1–8 of 2K

Venues

  1. PubMed

    Repository · 147 publications · 6K citations

    34

    h-index

  2. Human Heredity

    75 publications · 2.2K citations

    24

    h-index

  3. Clinical Genetics

    38 publications · 1.4K citations

    23

    h-index

  4. Annals of Human Genetics

    35 publications · 1.4K citations

    21

    h-index

  5. Human Mutation

    32 publications · 2.2K citations

    21

    h-index

1–5