Human Genetics

Publication Analysis 1996-2007
by Ralf Neumann, Labtimes 01/2008

Europe... ... and the World Most Cited Authors... ... and Papers

Most Cited Authors - Pictures

England has clearly dominated European human genetics research at the start of the 21st century. The particular success of mathematical geneticists is also remarkable. And then there is the case of an Icelandic company...

Under the headline “The 10 Hottest Nerds”, the US magazine, Newsweek, recently presented 10 candidates who they think (in their wisdom) might become the new “Einsteins of Biology”. Among them were two researchers who also made it into the top 30 list of the most cited European human geneticists presented here: Kari Stefansson (13th), founder and CEO of the Icelandic company, deCODE genetics, and Swedish citizen, Svante Pääbo (19th), director at the Max-Planck-Institute of Evolutionary Anthropology in Leipzig, Germany.

In the Newsweek article they were flanked by other “heroes” of the recent genomics revolution, such as Eric Lander, Craig Venter, George Church and David Botstein. Whether any of them will one day become “Einsteins of biology” (or if not them, who else?) is open to bets. For the time being, however, the Newsweek selection does at least serve to demonstrate the high impact that the field of human genetics has had on the public consciousness since the advent of genomics and its new technologies.

A new “Einstein” from human genetics?

One can be sure that bibliometric factors hardly played any role in selecting Newsweek’s ten candidates. Which of course is in complete contrast to our own analysis of European human genetics research where numbers of publications and citations are the sole criteria for ranking nations, papers and researchers.

Before discussing the results, however, first a few lines on the limitations of our analysis. As for all biomedical disciplines so far examined, the publication performance of the individual European countries between 2000 and 2006 is restricted to the specialist journals in the field. In this case these were the 131 journals listed under the category “Genetics and Heredity” in Thomson Scientific’s “Journal Citation Reports”, including, for example, Nature Genetics, The American Journal of Human Genetics or Genome Research. Regrettably, we had to exclude multidisciplinary journals such as Nature and Science because Thomson Scientific’s databases provide no tools with sufficient reliability to exclusively extract the human genetics articles. Indeed, the most prominent papers in the field could thus have been omitted from this part of the analysis. However, this limitation only applied for the analysis of the individual countries’ performances (see tables p. 35) for which we believe a survey of the expert journals provides sufficiently valid indicators for their overall productivity in human genetics research over the period 2000 to 2006. Nevertheless, for the rankings of the most-cited researchers and papers (see tables p. 36), the human genetics research publications in all journals were included.

Now for the results. Regarding the countries’ overall publication and citation rates the clear winner is England. By numbers of publications as well as the numbers of their citations the distance to its second-placed, constant European “rival”, Germany, is considerably greater than in most other biomedical disciplines. Researchers from England published some 40% more articles in the specialist journals between 2000 and 2006, altogether collecting almost 42% more citations than the corresponding German articles. The average ratio of citations per article is, however, nearly the same for both countries – 14.9 for England versus 14.8 for Germany.

Close behind the European “Big Two” lies France in third place, but then there is a broad gap to the fourth, Italy. By overall citation numbers, the Netherlands (5th) almost caught up with Italy despite publishing significantly fewer articles in the specialist journals between 2000 and 2006. The reason is clear: The Dutch articles were more frequently cited on average than the Italian ones.

Iceland in the driver’s seat

The best average ratios of citations per article among the top 20 countries were achieved by Scotland (16.1%), Austria (16.0%) and Switzerland (15.7%), a level similar to the average rate for US human genetics article.

Astoundingly, all of these nations were left far behind by a small country whose overall numbers of publications and citations were too low to make it into the top 20, Iceland. Between 2000 and 2006, researchers from the nordic island published only 174 articles in the human genetics specialist journals, but these were cited nearly 6,000 times to-date, yielding an average rate of 34 citations per article!

Nevertheless, the reason for this “success” soon becomes clear. Primarily it is the result of the activities of one of Newsweek’s ten prospective “new Einsteins”: Kari Stefansson and his Reykjavik-based company, deCODE genetics, which works on the genetics of common complex diseases and the development of diagnostic tests. In the Newsweek article, Stefansson explained the concept of deCODE, as follows: “It is not just the new technology for genotype sequencing, it is also the understanding that to make discoveries you need information about people, their diseases and their health. In Iceland, we have so much data on the health care of people, and that has put us in the driver’s seat.”

England still growing stronger

Apart from Kari Stefansson (13th) two more scientists from deCODE made it into the list of the 30 most-cited European human geneticists: co-founder Jeffrey Gulcher (16th) and statistical geneticist, Augustine Kong (29th). A particularly noteworthy result, since as a commercial company, deCODE surely hasn’t published all of its results in academic journals.

Back to the other European winner of this analysis, England. Four of the five most-cited European human genetics articles had correspondence addresses in England, only the paper in fourth place came from ... – guess who – ... deCODE genetics. Of the five most-cited researchers, four were working in England or Wales during 2000-2006, including the “Number One”, Lon Cardon from the Wellcome Trust Centre of Human Genetics at Oxford University. The second most-cited scientist, Leena Peltonen, left the National Public Health Institute in Helsinki and joined the Wellcome Trust Sanger Institute in Hinxton, UK, in September 2007 as Head of Human Genetics. Perhaps one reason why England’s human genetics research might perform even better in future years.

Altogether 11 researchers from England or Wales achieved a place in the European top 30 list of the most-cited authors in human genetics. Five were working in Germany, another four in French research institutions.

However, the number of citations which an individual researcher attracts with his or her publications doesn’t reflect upon their mere quality alone. It also depends to a great extent on the respective “hotness” of a certain research field. The “hotter” a given field, the more people usually work in it – meaning there are potentially more people out there to cite your own papers.

Statisticians highly regarded

Seen from this perspective, two facts are particularly remarkable when looking behind the names of the top 30 most-cited human geneticists. Firstly, a conspicuously high portion of them are working in the subfield of neuro-psychiatric genetics, notably trying to understand the genetic basis of neurological and psychiatric disorders. And secondly, among the most highly-cited articles and researchers there is a strong handful dealing with basic statistical or bioinformatical analyses of broad genomic or genotyping data. See, for example, the first three most-cited papers, they all have Peter Donnelly (4th) as senior author and they all describe the application of statistical methods to the analysis of huge amounts of genotyping data.

Finally, a last word on the growing number of mega-author-papers in genomics, many of which clearly belong to the field of human genetics. These cause a dilemma when assigning citations to individual co-authors. Take, for example, the 2001 Nature paper on the “Initial sequencing and analysis of the human genome” by the International Human Genome Sequencing Consortium. To-date this has been cited almost 6,000 times! Yet, would it be fair to assign the total of 6,000 citations to every single one of the several hundred co-authors? Surely not. That’s why, for our analysis, the citations of a paper were only assigned to one single co-author when it had less than fifty authors in total.


Articles which appeared between 2000 and 2006 in human genetics journals as listed by Thomson Scientific. Their citation numbers were recorded up until December 2007. A country’s figures are derived from articles where at least one author working in the respective European nation is included in the author’s list. Israel is included because it is a member of many European research organisations (EMBO, FEBS etc.), as well as participating in the EU Research Framework Programmes.

Citations of articles published between 2000-6 were recorded until December 2007. The “most cited papers” had correspondence addresses in Europe or Israel.


Country Citations Articles Cit./Art.

... and the World

Citations Articles Cit./Art.
Canada 100.0787.71713,0

Most Cited Authors...

Citations Articles
1.Lon R. Cardon, Wellcome Trust Ctr. Human Genet. Univ. Oxford5.57987
2.Leena Peltonen, Natl. Publ. Hlth. Inst., Biomedicum, Helsinki5.560168
3.Michael J. Owen, Neuropsychiat. Genet. Unit Univ. of Wales, Cardiff5.236179
4.Peter Donnelly, Wellcome Trust Ctr. Human Genet. Univ. Oxford5.11527
5.Douglas F. Easton, Canc. Res. UK Gen. Epidemiol. Cambridge4.880133
6.Stefan Schreiber, Dep. Med. & Clin. Mol. Biol. Univ. Kiel4.827157
7.Alexis Brice, Hosp. Pitié-Salpêtrière, INSERM, Paris4.815159
8.Richard R. Copley, Wellcome Trust Ctr. Human Genet. Univ. Oxford4.64135
9.Chris P. Ponting, Human Anat. & Genet., MRC, Univ. Oxford4.56666
10.Hans Lehrach, Max Planck Inst. Mol. Genet. Berlin4.523151
11.John A. Todd, Med. Gen. Cambridge Inst. Med. Res. Univ. Cambridge4.435104
12.Cornelia M. van Duijn, Epidemiol & Biostatist. Univ. Rotterdam4.211183
13.Kari Stefansson, deCODE genetics Reykjavik4.15880
14.Pak C Sham, Statist. & Psychiat. Genet. Kings Coll. Univ. London 4.108162
15.Jean Weissenbach, Genoscope – Ctr. Natl. Séquençage, CNRS, Evry4.04986
16.Jeffrey Gulcher, deCODE genetics Reykjavik4.00872
17.Arnold Munnich, Genet. Hôpital Necker – Enfants Malades Paris3.933230
18.Jaako Kaprio, Natl. Publ. Hlth. Inst. Helsinki3.872190
19.Svante Pääbo, Max Planck Inst. Evol. Anthropol. Leipzig3.87274
20.Christine van Broeckhoven, Mol. Genet. Univ. Antwerp3.700173
21.Eamonn R. Maher, Div. Med. Genet. Dept. Pediat. Univ. Birmingham3.657120
22.Stylianos E Antonarakis, Div. Med. Genet. Sch. Med. Univ. Geneva3.527112
23.William O. Cookson, Wellcome Trust Ctr. Human Genet. Univ. Oxford3.45954
24.Ronald J.A. Wanders, Lab. Genet. Metab. Dis. Univ. Amsterdam3.442252
25.Yosef Shiloh, Human Genet. & Mol. Med. Tel Aviv Univ.3.36347
26.Michael C. O‘Donovan, Neuropsychiat. Genet. Unit Univ. of Wales3.327116
27.Peter Lichter, German Canc Res Ctr Heidelberg3.311126
28.Christine Petit, Genet. Deficits Sensor. Inst. Pasteur, INSERM, Paris3.295112
29.Augustine Kong, deCODE genetics Reykjavik3.27042
30.Wolfgang Maier, Psychiat. Univ. Bonn3.268194

... and Papers

1.Pritchard JK, Stephens M, Donnelly P
Inference of population structure using multilocus genotype data.
GENETICS 155 (2): 945-959 JUN 2000
2.Stephens M, Smith NJ, Donnelly P
A new statistical method for haplotype reconstruction from population data.
3.Stephens M, Donnelly P
A comparison of Bayesian methods for haplotype reconstruction from population genotype data.
4.Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, ... , Gulcher JR, Stefansson K
A high-resolution recombination map of the human genome.
NATURE GENETICS 31 (3): 241-247 JUL 2002
5.Johnson GCL, Esposito L, Barratt BJ, Smith AN, Heward J, Di Genova G, ... , Gough SCL, Clayton DG, Todd JA
Haplotype tagging for the identification of common disease genes.
NATURE GENETICS 29 (2): 233-237 OCT 2001

Last Changed: 31.03.2012