Genomics and Rare Diseases
Genomics and Rare Diseases is a research topic within Genetics. Science Explorer counts 27k research works in it since 1950. 21.8% of them reached the world's top 10% most cited for their field and year.
This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants.
- Genetic Variants
- Sequence Interpretation
- Clinical Genomics
- Pathogenicity Prediction
- Exome Sequencing
- Mendelian Disorders
- Functional Annotations
- Variant Databases
- Phenotype Analysis
- ACMG Guidelines
- Research works
- 27k fractional, since 1950
- In the world top 10%
- 5.8k per year above
- Top-10% rate
- 21.8% share of its works in the world top 10%
- Growth, 2013–17 → 2018–22
- +45% the tick is no change
Which countries lead Genomics and Rare Diseases research?
By volume, the United States and China publish the most (2.2k and 857 works in 2022–2025).
By volume, 2022–2025
- 1 United States 2.2k works
- 2 China 857 works
- 3 United Kingdom 478 works
- 4 India 297 works
- 5 Germany 286 works
- 6 Italy 272 works
- 7 France 250 works
- 8 Canada 244 works
- 9 Australia 219 works
- 10 Spain 193 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.
Shares of the rows listed above, not of the whole node.
Which institutions lead Genomics and Rare Diseases research?
By volume in 2022–2025, University of North Carolina at Chapel Hill publishes the most Genomics and Rare Diseases research, followed by Harvard University and Baylor College of Medicine.
By volume, 2022–2025
- 1 University of North Carolina at Chapel Hill United States 46 works
- 2 Harvard University United States 42 works
- 3 Baylor College of Medicine United States 38 works
- 4 University of Pennsylvania United States 34 works
- 5 University College London United Kingdom 31 works
- 6 Stanford University United States 29 works
- 7 Boston Children's Hospital United States 29 works
- 8 University of Washington United States 27 works
- 9 Children's Hospital of Philadelphia United States 26 works
- 10 Broad Institute United States 26 works
Who are the leading researchers in Genomics and Rare Diseases?
The most-cited researchers publishing on Genomics and Rare Diseases include Mark J. Daly, Eric S. Lander and Benjamin M. Neale.
- 1 Mark J. Daly 9.6k citations
- 2 Eric S. Lander 8.5k citations
- 3 Benjamin M. Neale 7.9k citations
- 4 Stacey Gabriel 7.8k citations
- 5 Richard Durbin 7.1k citations
- 6 Vamsi K. Mootha 6.9k citations
- 7 Emelia J. Benjamin 6k citations
Ranked by citations received across their whole record, among researchers with at least three works on this topic.
Where is Genomics and Rare Diseases research done?
The largest centres of Genomics and Rare Diseases research in 2022–2025 are London (United Kingdom), Beijing (China), Paris (France) and New York (United States). Among places with at least 20 works in it, it is an unusually large share of all research in Bethesda.
Largest cities, 2022–2025
- 1 London United Kingdom 167 works
- 2 Beijing China 129 works
- 3 Paris France 119 works
- 4 New York United States 117 works
- 5 Boston United States 115 works
- 6 Shanghai China 87 works
- 7 Houston United States 83 works
- 8 Cambridge United States 83 works
- 9 Toronto Canada 79 works
- 10 Melbourne Australia 79 works
Where it is the local speciality
- BethesdaUS · 75.0 works8.7×
Location quotient: how much more of its research is in Genomics and Rare Diseases than the world average.
Where is the best place to study Genomics and Rare Diseases?
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.
One dot per university in the table below. The upper left is the interesting corner: small places doing unusually strong work.
| # | University | Score | Top 10% | Specialisation | Works | Growth |
|---|---|---|---|---|---|---|
| 1 | Baylor College of Medicine United States | 64.5 | 22.1% | 13.9× | 38 | +28.1% |
| 2 | Harvard University United States | 62.0 | 31.6% | 4.8× | 42 | +48.3% |
| 3 | Guangzhou Medical University China | 58.2 | 21.3% | 8.0× | 15 | +224.3% |
| 4 | University of Pennsylvania United States | 58.1 | 30.4% | 5.3× | 34 | +58.9% |
| 5 | University College London United Kingdom | 54.0 | 27.4% | 3.3× | 31 | +66.5% |
| 6 | The University of Melbourne Australia | 52.6 | 38.7% | 2.9× | 20 | +49.0% |
| 7 | Icahn School of Medicine at Mount Sinai United States | 52.3 | 27.3% | 5.6× | 19 | +90.4% |
| 8 | Karolinska Institutet Sweden | 51.2 | 39.5% | 3.7× | 11 | +32.7% |
| 9 | University of California, San Francisco United States | 50.1 | 25.0% | 5.0× | 22 | +75.7% |
| 10 | Radboud University Nijmegen Netherlands | 49.8 | 40.1% | 4.0× | 12 | +16.9% |
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 Genomics and Rare Diseases research growing?
Output in 2018–2022 was 45% higher than in 2013–2017, peaking in 2025. The fastest-growing topics are Genomics and Rare Diseases.
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.