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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. 10.0% 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%
2.7k
per year above
Top-10% rate
10.0%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
-1%
the tick is no change
Largest producer
United States
36% of the 10 largest, 2022-now
Genomic variations and chromosomal abnormalities

Which countries lead Genomic variations and chromosomal abnormalities research?

By volume, the United States and China publish the most (1k and 708 works in 2022-now).

By volume, 2022-now

  1. 1 United States 1k works
  2. 2 China 708 works
  3. 3 India 170 works
  4. 4 United Kingdom 166 works
  5. 5 Germany 159 works
  6. 6 Italy 150 works
  7. 7 Japan 149 works
  8. 8 France 114 works
  9. 9 Canada 110 works
  10. 10 Spain 93 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: 35.7%China: 25.0%India: 6.0%United Kingdom: 5.9%6 others listed: 27.4%36%largest
United States1,010 · 35.7%China708 · 25.0%India170 · 6.0%United Kingdom166 · 5.9%6 others listed775 · 27.4%

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

Which institutions lead Genomic variations and chromosomal abnormalities research?

By volume in 2022-now, Harvard University publishes the most Genomic variations and chromosomal abnormalities research, followed by Russian Academy of Sciences and National Institutes of Health.

By volume, 2022-now

  1. 1 Harvard UniversityUnited States 62 works
  2. 2 Russian Academy of SciencesRussia 29 works
  3. 3 National Institutes of HealthUnited States 27 works
  4. 4 Sichuan UniversityChina 27 works
  5. 5 Baylor College of MedicineUnited States 25 works
  6. 6 Shanghai Jiao Tong UniversityChina 25 works
  7. 7 University of North Carolina at Chapel HillUnited States 24 works
  8. 8 University of TorontoCanada 23 works
  9. 9 InsermFrance 21 works
  10. 10 Friedrich Schiller University JenaGermany 19 works

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

The most-cited researchers publishing on Genomic variations and chromosomal abnormalities include Eric S. Lander, George Davey Smith and Walter Churchill Willett.

  1. 1 Eric S. Lander United States 524k citations
  2. 2 George Davey Smith United Kingdom 435k citations
  3. 3 Walter Churchill Willett United States 411k citations
  4. 4 Richard M. Durbin United Kingdom 410k citations
  5. 5 Mark J. Daly United States 403k citations
  6. 6 Stacey L. Gabriel United States 402k citations
  7. 7 Peer Bork Germany 396k citations
  8. 8 Robert John Tibshirani United States 396k citations
  9. 9 Bert Vogelstein United States 373k citations
  10. 10 Steven L. Salzberg United States 372k citations

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

What are the most cited papers in Genomic variations and chromosomal abnormalities?

The most cited paper in Genomic variations and chromosomal abnormalities is "The Sequence Alignment/Map format and SAMtools" (Heng Li, Bob Handsaker, Alec Wysoker et al., 2009), with 69,061 citations. Next come "featureCounts: an efficient general purpose program for assigning sequence reads to genomic features" (30,361) and "BLAST+: architecture and applications" (24,075).

Most cited papers
#PaperReleasedCitations
1 The Sequence Alignment/Map format and SAMtools Heng Li, Bob Handsaker, Alec Wysoker et al. · Bioinformatics Open access 8 Jun 2009 69,061
2 featureCounts: an efficient general purpose program for assigning sequence reads to genomic features Yang Liao, Gordon K. Smyth, Wei Shi · Bioinformatics Open access 13 Nov 2013 30,361
3 BLAST+: architecture and applications Christiam Camacho, George Coulouris, Vahram Avagyan et al. · BMC Bioinformatics Open access Dec 2009 24,075
4 Model-based Analysis of ChIP-Seq (MACS) Yong Zhang, Tao Liu, Clifford A. Meyer et al. · Genome biology Open access 17 Sep 2008 20,527
5 ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Kai You Wang, Man Li, Hakon H. Hakonarson · Nucleic Acids Research Open access 3 Jul 2010 15,953
All 100 most cited papers, with filters and sorting

Where is Genomic variations and chromosomal abnormalities research done?

The largest centres of Genomic variations and chromosomal abnormalities research in 2022-now 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, Bethesda and Houston.

Largest cities, 2022-now

  1. 1 BeijingChina 80 works
  2. 2 GuangzhouChina 61 works
  3. 3 LondonUnited Kingdom 53 works
  4. 4 ShanghaiChina 53 works
  5. 5 New YorkUnited States 53 works
  6. 6 HoustonUnited States 52 works
  7. 7 ParisFrance 50 works
  8. 8 TokyoJapan 45 works
  9. 9 BostonUnited States 42 works
  10. 10 ChengduChina 42 works

Where it is the local speciality

  1. TaichungTW · 28.6 works8.4×
  2. BethesdaUS · 26.2 works5.7×
  3. HoustonUS · 51.6 works5.5×
  4. SeattleUS · 28.8 works4.0×
← less than its size predicts1×more →

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, Harvard University, University of Washington and Baylor College of Medicine 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%10%20%30%mean 19.66%fractional works in this field (log) →share of work in the world top 10% →Radboud University N…University of Washin…Harvard UniversityBaylor College of Me…
above the meannear itbelow it

One dot per university in the first ten of the table below, at the default weights. The upper left is the interesting corner: small places doing unusually strong work.

Excellenceshare of its work in the world top 10%, 2022-now and all time averaged
40%
Specialisationhow much of its work is in this field, counted up to 10× the world share
10%
Sizeits output in this field, on a log scale
30%
Growthoutput growth, counted from -20% to +20%
10%
Internationalshare of its work with a co-author abroad
10%
Each slider sets a weight; the share it gets of the score is beside it.
#UniversityScoreTop 10%SpecialisationWorksGrowth
1Harvard UniversityUnited States 84.721.2%5.8×62 -2.9%
2University of WashingtonUnited States 66.521.4%4.2×16 +9.5%
3Baylor College of MedicineUnited States 61.114.9%14.9×25 -14.0%
4Radboud University NijmegenNetherlands 60.826.2%5.3×11 -12.8%
5University of TorontoCanada 58.714.1%3.4×23 +1.9%
6University of OxfordUnited Kingdom 57.619.2%1.9×9 +24.0%
7University of California San DiegoUnited States 55.922.9%3.4×11 -6.4%
8Cardiff UniversityUnited Kingdom 55.521.1%6.4×10 -32.6%
9Karolinska InstitutetSweden 53.418.4%5.5×10 +0.9%
10Stanford UniversityUnited States 52.217.2%2.9×14 -13.4%

Universities only. The score blends excellence (40%), size (30%), specialisation (10%), growth (10%), international reach (10%), 2022-now; growth compares 2018-21 with 2022-25 and counts up to +20%, since a jump from a small base is mostly noise.

Every institution in Genomic variations and chromosomal abnormalities, country by country

Is Genomic variations and chromosomal abnormalities research growing?

Output in 2022-2025 was 1% lower than in 2018-2021, peaking in 2008.

still counting19801990200020102020
grewheldshrank

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

Its share of all research

Growing output can still be a shrinking share: all of science grows. This is Genomic variations and chromosomal abnormalities as a percentage of every work published that year, 0.015% in 2024.

still counting0.020%0.040%0.060%Genomic variations and chromosomal abnormalities0.016% in 202519801990200020102020

Fractional works of Genomic variations and chromosomal abnormalities over all fractional works that year. How the balance of science has shifted.

How much of it reaches the world top 10%

Year by year.

still counting5%10%15%Genomic variations and chromosomal abnormalities10.1% in 2025200020102020

Of each year's works in it, the share that reached the world's 10% most cited for their field and year. A field is the world for its own topics, so there is no other line to hold it against.

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.

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