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Topic · Genetics

Genomic variations and chromosomal abnormalities

Genomic variations and chromosomal abnormalities is a research topic within Genetics. Science Explorer counts 27k research works in it since 1950. 24.2% of them reached the world's top 10% most cited for their field and year.

This cluster of papers focuses on genomic rearrangements and copy number variations in the human genome, exploring their role in various conditions such as neurodevelopmental disorders and cancer. The research covers topics such as structural variation, chromosomal aberrations, segmental duplications, and high-resolution mapping techniques.

  • Genomic Rearrangements
  • Copy Number Variation
  • Structural Variation
  • Chromosomal Aberrations
  • Segmental Duplications
  • Microarray Analysis
  • Human Genome
  • Neurodevelopmental Disorders
  • Cancer Genomes
  • High-Resolution Mapping
Research works
27k
fractional, since 1950
In the world top 10%
6.4k
per year above
Top-10% rate
24.2%
share of its works in the world top 10%
Growth, 2013–17 → 2018–22
-2%
the tick is no change

Which countries lead Genomic variations and chromosomal abnormalities research?

By volume, the United States and China publish the most (792 and 570 works in 2022–2025).

By volume, 2022–2025

  1. 1 United States 792 works
  2. 2 China 570 works
  3. 3 India 137 works
  4. 4 United Kingdom 134 works
  5. 5 Italy 129 works
  6. 6 Japan 122 works
  7. 7 Germany 114 works
  8. 8 Canada 93 works
  9. 9 France 92 works
  10. 10 Spain 78 works

How concentrated that is

The same countries as shares of everything the list above accounts for. A node where two countries do two thirds of the work and one spread evenly across twelve read alike as a ranking and not at all alike here.

United States: 35.0%China: 25.2%India: 6.1%United Kingdom: 5.9%6 others listed: 27.8%35%largest
United States792 · 35.0%China570 · 25.2%India137 · 6.1%United Kingdom134 · 5.9%6 others listed628 · 27.8%

Shares of the rows listed above, not of the whole node.

Which institutions lead Genomic variations and chromosomal abnormalities research?

By volume in 2022–2025, University of North Carolina at Chapel Hill publishes the most Genomic variations and chromosomal abnormalities research, followed by Baylor College of Medicine and Harvard University.

By volume, 2022–2025

  1. 1 University of North Carolina at Chapel HillUnited States 18 works
  2. 2 Baylor College of MedicineUnited States 16 works
  3. 3 Harvard UniversityUnited States 16 works
  4. 4 Sichuan UniversityChina 13 works
  5. 5 Children's Hospital of PhiladelphiaUnited States 12 works
  6. 6 China Medical UniversityTaiwan 11 works
  7. 7 University of WashingtonUnited States 10 works
  8. 8 Shanghai Jiao Tong UniversityChina 10 works
  9. 9 Yale UniversityUnited States 10 works
  10. 10 Fujian Medical UniversityChina 10 works

Who are the leading researchers in Genomic variations and chromosomal abnormalities?

The most-cited researchers publishing on Genomic variations and chromosomal abnormalities include Mark J. Daly, Eric S. Lander and Benjamin M. Neale.

  1. 1 Mark J. Daly United States 9.6k citations
  2. 2 Eric S. Lander United States 8.5k citations
  3. 3 Benjamin M. Neale United States 7.9k citations
  4. 4 Stacey Gabriel United States 7.8k citations

Ranked by citations received across their whole record, among researchers with at least three works on this topic.

Where is Genomic variations and chromosomal abnormalities research done?

The largest centres of Genomic variations and chromosomal abnormalities research in 2022–2025 are Beijing (China), Guangzhou (China), London (United Kingdom) and Shanghai (China). Among places with at least 20 works in it, it is an unusually large share of all research in Taichung, Houston and San Diego.

Largest cities, 2022–2025

  1. 1 Beijing China 67 works
  2. 2 Guangzhou China 50 works
  3. 3 London United Kingdom 44 works
  4. 4 Shanghai China 43 works
  5. 5 New York United States 42 works
  6. 6 Paris France 39 works
  7. 7 Houston United States 39 works
  8. 8 Tokyo Japan 37 works
  9. 9 Boston United States 33 works
  10. 10 Chengdu China 33 works

Where it is the local speciality

  1. TaichungTW · 22.4 works7.9×
  2. HoustonUS · 38.7 works5.1×
  3. San DiegoUS · 21.4 works4.0×
← less than its size predictsmore →

Location quotient: how much more of its research is in Genomic variations and chromosomal abnormalities than the world average.

See Genomic variations and chromosomal abnormalities on the map

Where is the best place to study Genomic variations and chromosomal abnormalities?

Among universities, judged by research, Baylor College of Medicine, Harvard University and Guangzhou Medical University score highest, combining excellence, specialisation, size, growth and international reach. Research strength is one signal when choosing where to study; it does not measure teaching.

0%20%40%mean 28.23%fractional works in this node (log) →share in the world top 10% →Baylor College of Medicine: 16, 28.6%Harvard University: 16, 31.8%Guangzhou Medical University: 9, 25.0%Fujian Medical University: 10, 29.6%China Medical University: 11, 17.2%University of Washington: 10, 36.7%Sichuan University: 12, 22.9%University of California San Diego: 8, 35.5%Icahn School of Medicine at Mount Sinai: 9, 29.1%Shanghai Jiao Tong University: 10, 25.9%Harvard UniversityFujian Medical Unive…Baylor College of Me…Guangzhou Medical Un…
above the meannear itbelow it

One dot per university in the table below. The upper left is the interesting corner: small places doing unusually strong work.

#UniversityScoreTop 10%SpecialisationWorksGrowth
1 Baylor College of MedicineUnited States 67.928.6%13.0×16 -8.6%
2 Harvard UniversityUnited States 57.231.8%4.0×16 -25.6%
3 Guangzhou Medical UniversityChina 56.325.0%11.3×9 +112.0%
4 Fujian Medical UniversityChina 54.729.6%9.1×10
5 China Medical UniversityTaiwan 51.217.2%24.6×11 -34.8%
6 University of WashingtonUnited States 44.936.7%3.4×10 -48.9%
7 Sichuan UniversityChina 44.522.9%2.4×12 +432.5%
8 University of California San DiegoUnited States 43.035.5%3.2×8 +42.1%
9 Icahn School of Medicine at Mount SinaiUnited States 41.229.1%5.8×9 -2.1%
10 Shanghai Jiao Tong UniversityChina 40.225.9%1.5×10 +183.9%

Universities only. Score blends excellence (30%), specialisation (25%), size (20%), growth (15%) and international reach (10%), 2015–2022; growth compares 2010–14 with 2015–19.

Is Genomic variations and chromosomal abnormalities research growing?

Output in 2018–2022 was 2% lower than in 2013–2017, peaking in 2008. The fastest-growing topics are Genomic variations and chromosomal abnormalities.

19801990200020102020
grewheldshrank

The same series as a ribbon — one cell per year, darker for more. The line above answers how much; this answers when.

Which topics inside it are moving

Growth and decline on one axis around a shared zero. Two lists side by side hide the thing that matters: whether the growth dwarfs the decline, or the other way round.