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Topic · Genetics

Genomics and Rare Diseases

Genomics and Rare Diseases 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 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%
2.7k
per year above
Top-10% rate
10.0%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
+40%
the tick is no change
Largest producer
United States
41% of the 10 largest, 2022-now
Genomics and Rare Diseases

Which countries lead Genomics and Rare Diseases research?

By volume, the United States and China publish the most (2.8k and 1.1k works in 2022-now).

By volume, 2022-now

  1. 1 United States 2.8k works
  2. 2 China 1.1k works
  3. 3 United Kingdom 605 works
  4. 4 India 408 works
  5. 5 Germany 367 works
  6. 6 Italy 336 works
  7. 7 France 311 works
  8. 8 Canada 310 works
  9. 9 Australia 278 works
  10. 10 Spain 241 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: 41.0%China: 16.7%United Kingdom: 8.9%India: 6.0%6 others listed: 27.2%41%largest
United States2,778 · 41.0%China1,133 · 16.7%United Kingdom605 · 8.9%India408 · 6.0%6 others listed1,844 · 27.2%

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

Which institutions lead Genomics and Rare Diseases research?

By volume in 2022-now, Harvard University publishes the most Genomics and Rare Diseases research, followed by National Institutes of Health and University of North Carolina at Chapel Hill.

By volume, 2022-now

  1. 1 Harvard UniversityUnited States 182 works
  2. 2 National Institutes of HealthUnited States 90 works
  3. 3 University of North Carolina at Chapel HillUnited States 72 works
  4. 4 University of TorontoCanada 63 works
  5. 5 InsermFrance 62 works
  6. 6 Baylor College of MedicineUnited States 60 works
  7. 7 University College LondonUnited Kingdom 60 works
  8. 8 Stanford UniversityUnited States 52 works
  9. 9 Columbia UniversityUnited States 48 works
  10. 10 The University of MelbourneAustralia 47 works

Who are the leading researchers in Genomics and Rare Diseases?

The most-cited researchers publishing on Genomics and Rare Diseases include David Moher, Eric S. Lander and George Davey Smith.

  1. 1 David Moher Canada 898k citations
  2. 2 Eric S. Lander United States 524k citations
  3. 3 George Davey Smith United Kingdom 435k 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 Julian P. T. Higgins United Kingdom 390k 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 Genomics and Rare Diseases?

The most cited paper in Genomics and Rare Diseases is "Trimmomatic: a flexible trimmer for Illumina sequence data" (Anthony Bolger, Marc Lohse, Björn Usadel, 2014), with 71,819 citations. Next come "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology" (33,443) and "BEDTools: a flexible suite of utilities for comparing genomic features" (31,302).

Most cited papers
#PaperReleasedCitations
1 Trimmomatic: a flexible trimmer for Illumina sequence data Anthony Bolger, Marc Lohse, Björn Usadel · Bioinformatics Open access Apr 2014 71,819
2 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Sue M. Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine Open access 5 Mar 2015 33,443
3 BEDTools: a flexible suite of utilities for comparing genomic features Aaron R. Quinlan, Ira M. Hall · Bioinformatics Open access 28 Jan 2010 31,302
4 HTSeq—a Python framework to work with high-throughput sequencing data Simon Anders, Paul Theodor Pyl, Wolfgang K. Huber · Bioinformatics Open access 25 Sep 2014 23,242
5 A global reference for human genetic variation Corresponding authors et al. · Nature Open access815 authors 29 Sep 2015 20,444
All 101 most cited papers, with filters and sorting

Where is Genomics and Rare Diseases research done?

The largest centres of Genomics and Rare Diseases research in 2022-now are London (United Kingdom), Beijing (China), Paris (France) and New York (United States).

Largest cities, 2022-now

  1. 1 LondonUnited Kingdom 210 works
  2. 2 BeijingChina 164 works
  3. 3 ParisFrance 151 works
  4. 4 New YorkUnited States 151 works
  5. 5 BostonUnited States 146 works
  6. 6 ShanghaiChina 110 works
  7. 7 HoustonUnited States 107 works
  8. 8 CambridgeUnited States 102 works
  9. 9 MelbourneAustralia 99 works
  10. 10 PhiladelphiaUnited States 98 works
See Genomics and Rare Diseases on the map

Where is the best place to study Genomics and Rare Diseases?

Among universities, judged by research, Harvard University, Radboud University Nijmegen and The University of Melbourne 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 16.64%fractional works in this field (log) →share of work in the world top 10% →Radboud University N…Karolinska InstitutetThe University of Me…Harvard University
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 85.716.7%7.1×182 +24.3%
2Radboud University NijmegenNetherlands 74.324.6%6.2×30 +6.6%
3The University of MelbourneAustralia 69.316.8%5.2×47 +48.6%
4Karolinska InstitutetSweden 68.220.0%5.5×25 +23.7%
5Stanford UniversityUnited States 67.515.9%4.4×52 +42.8%
6University College LondonUnited Kingdom 64.413.0%4.7×60 +16.0%
7Baylor College of MedicineUnited States 63.211.0%14.7×60 +16.9%
8University of ExeterUnited Kingdom 62.419.5%4.5×15 +63.8%
9University of WashingtonUnited States 62.014.1%4.7×43 +16.9%
10University of OxfordUnited Kingdom 60.914.8%2.6×29 +25.7%

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 Genomics and Rare Diseases, country by country

Is Genomics and Rare Diseases research growing?

Output in 2022-2025 was 40% higher than in 2018-2021, peaking in 2025. The fastest-growing topics are Genomics and Rare Diseases.

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 Genomics and Rare Diseases as a percentage of every work published that year, 0.033% in 2024.

still counting0.020%0.040%0.060%Genomics and Rare Diseases0.042% in 202519801990200020102020

Fractional works of Genomics and Rare Diseases 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%Genomics and Rare Diseases9.9% 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.

Questions people ask

Who leads research on rare genetic diseases?

By volume in 2022-now, Harvard University publishes the most Genomics and Rare Diseases research, followed by National Institutes of Health and University of North Carolina at Chapel Hill. By volume, the United States and China publish the most (2.8k and 1.1k works in 2022-now).

All 1,273 questions in the Question Catalogue

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