Open computational landscape genetics

Geographical Information Systems (GIS) are considered to be applications-led technology. Consequently, geographic information scientists commonly find themselves as guest in host disciplines in order to best exploit spatial analysis tools and methods, appropriately guided by experts in the field. An example is population genetics in evolutionary biology. Genetic information being linked to living organisms can be partially characterized by geographic coordinates. A research field named landscape genetics emerged at the intersection of genetics, environmental and geographic information science. Geocomputation and programming efforts carried out with the help of open sources technologies and dedicated to the analysis of genetic data gather together a key scientific community whose goal is to extract new knowledge from the present data tsunami caused by the advent of high throughput molecular data and of new sources of high resolution environmental data. While the level of sophistication of the population genetics functions included in the analytical frameworks developed until now are cutting-edge, advanced geo-competences are also required to reinforce the spatial side of this discipline. They will be particularly useful in conservation programmes for wildlife preservation, but also in farm animal genetic resources conservation.

Multi-scale landscape genomic models

Kevin Leempoel

Environmental heterogeneity is one of the main actors of biodiversity and species adaptation as it exerts a selective pressure on observable characteristics of living organisms. Consequently, local adaptation favours certain genetic variants and, by doing so, leaves a footprint in the genetic heritage across populations. The identification of these adaptive genetic variations is the main objective of landscape genomics and allows, among other things, to study the role of specific regions of the genome in evolutionary processes. Landscape genomics studies also provide essential information for species conservation and for the prediction of migrations due to environmental changes. To identify these adaptations to the environment, it is necessary to define a study area where the populations are sampled. However, defining the scale of the study area is not a trivial task. In fact, whether the work is carried out at a local or at a broad scale determines the relevance of environmental factors and the type of signature of selection that will be observed. In addition, the concept of scale in ecology takes into account not only the extent of the study area but also the pattern and density of the geographic distribution of observations, and the spatial resolution of predictors (environmental variables), which is intrinsically linked to the extent. However, a priori indications about the relevance of any resolution over another are rare in the literature and it is therefore essential to question this issue. In this thesis, we propose a multi-scale landscape genomic framework to identify signatures of adaptation to the environment. This multidisciplinary framework lies at the interface between geographic information systems, spatial analysis, environmental modelling, population genetics and computer science. Specifically, we focus on the relevance of variables derived from Digital Elevation Models (DEMs) and on the application of multi-scale analysis aiming to detect signatures of selection. We applied this analytical framework to three case studies, comprising four species: Biscutella laevigata sampled at a local scale, Plantago major at a regional scale, sheep and goats at a large scale. In particular, the case of B. laevigata allowed us to evaluate the role of topographic features based on Very High Resolution DEMs and to include DEM-derived variables as predictors in association models to study the adaptation of species to their local environment. On the other hand, the case of Moroccan sheep and goats permitted to include for the first time whole genome sequence data within landscape genomic models. The results revealed several important findings. We showed that micro-climate variability is highly dependent on topographic factors at a local scale and that therefore, DEMs are relevant for understanding species adaptation to a mountainous environment. We also demonstrated that it is essential to consider the scale of spatial representativeness by assessing DEM-derived variables at various spatial resolutions. Indeed, two out of three case studies showed that the models involving topographic variables were sensitive to changes in resolution. In summary, we used several landscape genetics approaches to understand the role of environmental factors in the local adaptation of various species. Our findings mainly provide an important contribution to the understanding and use of scale in landscape genomics, also useful in landscape ecology.

EPFL2015

GEOME : A web-based landscape genomics geocomputation platform

Stéphane Joost, Michaël Kalbermatten

Landscape ecologists and resource conservation managers increasingly need geo-referenced data but are not trained to efficiently use Geographical Information Systems together with appropriate geo-environmental information and spatial analysis approaches. In the present context of rapid global climate change, they show a renewed interest to study adaptation in species of interest (wildlife, livestock, plants) with the help of landscape genomics. This emerging research field is at the interface of genome sciences, environmental resources analysis, bioinformatics, geocomputation and spatial statistics. Their combination permits to assess the level of association between specific genomic regions of living organisms and environmental factors, to better understand the genetic basis of local adaptation. Landscape genomics is thus able to provide objective criteria to prioritize species which are the most worthwhile preserving. In livestock science for instance, husbandry based on adapted breeds is of key importance to emerging countries. Consequently, to facilitate the use of landscape genomics, the GEOME project proposes a WebGIS-based platform for the integrated analysis of environmental, ecological and molecular data through the implementation of an original set of combined geocomputation, databases, spatial analysis and population genetics tools. The platform will gather two existing software to identify genomic regions under selection (BayeScan and MatSAM) using a WebGIS solution named MapIntera. The latter is a multiple views exploratory visualization interface allowing users to interactively browse and query multiple dynamic layouts (e.g. graphs, maps). It is based on a SVG graphical interface coupled to Javascript interactivity and AJAX technology for the retrieval of information from a spatial database. The platform will be connected to a High Performance Computing infrastructure, able to handle and process very large genome and environmental data sets

International Society for Photogrammetry and Remote Sensing2010

Biogeoinformatics for the management of Farm Animal Genetic Resources (FAnGR)

Solange Catherine Gaillard

In the context of both severe selection in farm animals and potential effects of climate change, it is crucial to implement a sustainable management of the breeding practice, supported by a judicious use of geographic information technologies. Based on this observation, this thesis advocates the use of biogeoinformatics (the combined use of biology, geographic information and informatics) to cope with the challenges encountered by the livestock sector. Indeed, although biogeoinformatics can provide key insights for FAnGR (Farm Animal Genetic Resources) management, the variety and complexity of tasks involved hinders a wider usage of this type of analyses. The thesis shows how novel dedicated tools are likely to facilitate the adoption of biogeoinformatics by animals scientists and by stakeholders in the livestock sector, while investigating three main challenges related to FAnGR management, namely i) erosion of genetic diversity, ii) effects of climate change on the breeding activity, and iii) pressure on typical cultural breeding practices such as high alpine grazing. On this basis, the thesis is organised around three axes:

Preserving locally adapted breeds In order to prevent the erosion of genetic diversity, locally adapted breeds should be monitored to prevent their extinction. To this end, we developed the open source GENMON WebGIS platform, able to monitor FAnGR and to evaluate the degree of endangerment of livestock breeds. The system integrates various sources of information that are linked with the help of geographic information: pedigree and introgression, geographical concentration of animals, cryo-conservation and sustainability of breeding activities. The score can be visualised on a map and allows a fast and regional identification of breeds in danger.
Preserving locally adapted genetic variations Considering the pace at which genetic diversity is being eroded, it has become urgent to identify and then preserve important genetic variations linked to locally adapted phenotypes. In this context, the recent SamÎ²ada software was designed to search for signatures of local adaptation through the study of genomeâenvironment association. However, preâ and postprocessing of data for this analysis can be labourâintensive, and, we therefore developed the R.SamBada R package providing a pipeline for landscape genomic analyses. Based on SamÎ²ada, it spans from the retrieval of environmental conditions at sampling locations to gene annotation using the Ensembl genome browser. As a result, it grants access to biogeoinformatic analyses to researchers with no skills in geography.
Preserving a traditional farming technique suited for local breeds The preservation of locally adapted breeds is also strongly linked with the conservation of traditional farming techniques, which in Switzerland, include the grazing of high alpine pastures during summer. One major effect of this transhumance on cows is that milk production declines due to food shortage and climatic stress. Here, we developed a new mathematical model to fit a lactation curve for mountain-pastured cows, and tested the influence of environmental, physiological, and morphological factors on the production using five million monthly milk records from Braunvieh cows. When compared to physiological factors, environmental variables show a limited impact on milk production at alpine pastures, precipitation in spring being the most important.

EPFL2020