Human Genetics

Publication Analysis 2005-2011
by Kathleen Gransalke, Labtimes 01/2014

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When it comes to Human Genetics research, there’s no way around two nations, the UK and Iceland – or more particularly, the Wellcome Trust Sanger Institute in Hinxton and deCODE Genetics, Reykjavik.

There’s no other scientific discipline that, so easily, makes high-profile headlines – often followed by ferocious debates – than human genetics. Who doesn’t remember the uproar caused when an American actress found out about her genetic predisposition for breast cancer and the discussions that started when the FDA ordered the sales ban of 23andMe’s genetic test kit late last year. Also, the genetics community does not shrink from unleashing one or more sensational news story. In autumn 2012, the Encyclopedia of DNA Elements (ENCODE) consortium claimed that 80% of the human genome has a bio­logical function, including the obscure “junk DNA”.

As it turns out, the meaning of “function” lies in the mind of the beholder. “Like many English language words, ‘functional’ is a very useful but context-dependent word. Does a ‘functional element’ in the genome mean something that changes a biochemical property of the cell … or is it something that changes a phenotypically observable trait that affects the whole organism? At their limits … these two definitions merge,” writes ENCODE lead ana­lyst, Ewan Birney, in his blog. So, to bring their message firmly across, the ENCODE consortium opted for a more headline-grabbing percentage and, by doing so, affronted a few fellow geneticists and, what’s worse, even attracted some Creationists. “The ENCODE results were predicted by one of its authors to necessitate the rewriting of textbooks. We agree, many textbooks dealing with marketing, mass-media hype, and public relations may well have to be rewritten,” commented biologists from the University of Houston sardonically (Genome Biol Evol, 5(3):578-90).

65,000 citations for Sanger

In other big genetics news, the father of DNA sequencing, Frederick Sanger, passed away on November 19th, last year. Sanger’s group was the first to decode the genome of an entire organism, the virus Phi X 174, in 1977. His technique also helped to crack the human genome. And without him, there would, most likely, be no Human Genetics ranking in this issue of Lab Times. As a side note, Sanger’s seminal paper “DNA Sequencing with Chain-Terminating Inhibitors”, published in 1977 (PNAS, 74(12):5463-7) has attracted more than 65,000 citations to-date.

This finally leads us to our current publication analysis, looking at the research output of Human Geneticists between 2005 and 2011. First of all, it must be mentioned that for our nations’ performance table, we only collected data from Genetics & Heredity specialist journals as defined by Thomson Reuters’ Web of Science database – in this case, regardless of species affiliation: human, mouse, plant, we took it all. For our most-cited heads table, however, we, again, expanded our narrow view to include all journals, including multi-disciplinary ones like Nature and Science. Here, we tried to focus on those scientists, who predominantly are interested in solving genetic riddles hidden in human DNA.

Going through the expert journals’ list, we noticed that remarkably many new specialist journals entered the genetics publishing scene in recent times. For example, the first issue of the Journal of Nutrigenetics and Nutrigenomics appeared in October 2007, Molecular Cytogenetics has been around since March 2008 and Genome Medicine has been publishing peer-reviewed papers “from a post-genomic perspective” as of January 2009. Among the long-established genetics journals, Nature Reviews Genetics, Nature Genetics and the Annual Review of Genetics are the prime addresses for geneticists and their manuscripts.

The UK dominates overall
In the years between 2005 and 2011, geneticists based in Europe published more than 45,000 articles, reviews or proceedings papers in the above-mentioned specialist journals. Unravelled into single nations, the UK came off as the clear winner with almost 100,000 more citations than runner-up, Germany, and almost twice as many as France in bronze place. Almost certainly, a good portion of those articles was authored by scientists from the Wellcome Trust Sanger Institute at Hinxton, UK.

The human genetics top 20 nations’ chart also saw a Lab Times premiere: for the very first time, Iceland scored a place in the rankings. Back in 2008, when we did our first Human Genetics ranking for the years 2000 to 2006 (LT 1-2008, pp 34-6), the small country on the Mid-Atlantic Ridge, only came in at place 24, with 174 articles and 5,941 citations. In the following years, Icelandic researchers haven’t miraculously cranked up their research output, writing just about 21 papers more, but these papers have gained quite a lot more recognition, spiralling their citation-per-article ratio to a never-before-seen 93.6. By the way, all top ten most-cited papers with Icelandic authors achieved over 400 citations. Those who suspect a not-quite-so-small genome analysis company behind these stunning numbers are on exactly the right track.

Between the continents, one is almost as good as the other when comparing the article and citation numbers of Europe with the USA. Interestingly, but not mentioned in the table as both citation and article numbers were too low, another small country, Singapore, outcompeted the two big guns in the citations-per-article category (32.6).

Now, let’s have a look at the most-cited authors in Human Genetics in Europe between 2005 and 2011. Already at first glance, it’s easy to see what kind of research results in high citations – fishing out genetic variants that predispose unlucky carriers to certain diseases. Genome-wide association studies are the bread and butter of Human Genetics research and it’s pretty safe to say that all our top 30 most-cited researchers are GWAS experts.

As clearly as the UK dominates the top 20 nations’ performance ranking, researchers affiliated with UK institutes, particularly the Wellcome Trust Sanger Institute, rule the most-cited authors’ top 30. More than half (16) currently do their research work in the United Kingdom, including the first three, Panos Deloukas (1st), Jeffrey C. Barrett (2nd) and Mark I. McCarthy (3rd). Not surprising is the number (4) of researchers from Iceland within the top 30. The entire leadership circle of deCODE Genetics, headed by Co-founder, President, Chairman and CEO, Kari Stefansson (4th) and accompanied by Vice President of Research, Unnur Thorsteinsdottir (12th) and Vice President of Statistics, C. Augustine Kong (13th), collected enough citations to rise to supreme power in Human Genetics and line their pockets along the way. Also the Netherlands, specifically the Erasmus Medical Center in Rotterdam, is a hotspot for Human Genetics Research. The three genetic epidemiologists, André Uitterlinden (14th), Cornelia van Duijn (18th) and Jacqueline Witteman (25th), work there.

Where are the cancer researchers?

Conspicuously, a rather big number of our top 30 is already well-known from another recent ranking, the Endocrinology and Metabolism ranking (LT 3-2013 pp. 32-4). Mark I. McCarthy, Nicholas J. Wareham (6th), Andrew T. Hattersley (10th), Jaakko Tuomilehto (11th), Leif Groop (26th) and Timothy M. Frayling (27th) are all proven experts in diabetes research, who approach their research topic with a DNA sequencer.

Besides diabetes, research about neuropsychiatric and -pathol­ogical conditions like schizophrenia, bipolar disorder (Cardiff University’s Michael J. Owen, 21st, and Michael C. O’Donovan, 30th) and Alzheimer’s (van Duijn) also yield many citations. For a “genetic disease”, surprisingly few top 30 researchers study cancer. Only two researchers, Douglas F. Easton (16th) and Michael R. Stratton (since last year, Sir Michael R. Stratton, 17th) fly the flag for all European cancer researchers.

In closing, just a few more words about one of the megaprojects between 2005 and 2011, the HapMap project, constructing SNP maps of the human genome (Nature, 437, 1299-320). Not less than five of our most-cited Human Geneticists participated: Jonathan Marchini (15th), Panos Deloukas, Rhian Gwilliam (19th), Peter Donnelly (20th) and Nigel Carter (22nd). Deloukas, then at the Wellcome Trust Sanger Institute, said in a press release, “Humans are genetically 99.9% identical: it is the tiny percentage that is different that holds the key to why some of us are more susceptible to common diseases such as diabetes and hypertension or respond differently to treatment with certain drugs (…) It has been both fascinating and rewarding to be part of this collaborative enterprise.”

And speaking of “collaboration”, there is almost no other research discipline that brings together scientists from so many different backgrounds. Mathematicians (Donnelly, Marchini) physicists (Barrett), biologists, chemists (Deloukas) and physicians all contribute their mite to make a gigantic project, just like the HapMap project, a major success. And this sets a good example for all of science.

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Last Changed: 06.02.2014