

The Minerva Research Group for Bioinformatics (Janet Kelso)

The group develops and applies computational approaches for the analysis of ancient and modern human genomes.

Ancient genomes

In the last 10 years ongoing work in the Genetics department has made it possible to retrieve and sequence DNA from ancient biological samples dating to as much as 400,000 years old. We have sequenced whole and partial genomes of a number of Neandertals, as well as from early modern humans, and continue to work towards adding new archaic and early modern human genomes in order to improve our understanding of the relationships, population histories and interactions of early human groups.

A number of challenges accompany the analysis of such ancient samples. Only very small amounts of endogenous DNA are typically present in such old materials, and the vast majority of the DNA obtained is from micro-organisms. In addition, the remaining DNA is usually degraded into very short, chemically damaged fragments. We therefore apply a combination of molecular and computational approaches to optimize the retrieval of DNA and to ensure that the sequences that are used in analysis are reliable.

Efforts in the group focus on developing software and analysis methods for the analysis of ancient DNA sequences. These methods are constantly being updated and improved in order to improve our ability to work on even older and more poorly preserved specimens. We make all our software available under open source licenses.

most recent publication

Archaic Introgression

One of the most striking findings of the Neandertal genome project was the discovery that Neandertals contributed approximately 2% of the genomes of present-day non-Africans, and that Denisovans contributed approximately 4-6% of the genomes of people who today live in Oceania. We have had a particular interest in understanding the timing and effects of interactions between Neandertals, Denisovans and early modern humans. Our most recent work has used a simple computational approach to identify haplotypes that are likely of archaic origin and to combine these with large public human genome, gene expression, and phenotype datasets to determine the likely functional consequences of these haplotypes. Our work has shown that Neandertal DNA influences a number of traits such as immunity and those influenced by sun-exposure.

Press release:
October 05, 2017: How easily we tan is influenced by Neandertal DNA

Neandertal DNA influences variation in skin tone and hair colour in people living today

After humans and Neandertals met many thousands of years ago, the two species began interbreeding. While Neandertals aren't around anymore, about two percent of the DNA in non-African people living today comes from them. Recent studies have shown that some of those Neandertal genes have contributed to human immunity and modern diseases. Now researchers have found that our Neandertal inheritance has contributed to other characteristics, too, including skin tone, hair colour, sleep patterns, mood, and even a person's smoking status.

Link to press release

Original publication

Software and Databases

We develop software and databases for the analysis of ancient and modern genomes. A list of published software packages is available here:

Or on our group’s Github site https://github.com/mpieva

All our software are available under open source licenses.