Denna projektrapport är avsedd att vara ett hjälpmedel för SiCell, en del av SciLifeLab Uppsala som ska bli Europas första plattform för enkelcellgenomik till hösten 2013. SiCell har bett projektgruppen om undersökningar gällande ett Laboratory Information Management System, LIMS. På svenska ett datahanteringsystem för laboratorier. Ett sådant system skulle kunna effektivisera SiCells verksamhet. Undersökningarna har resulterat i en kravspecifikation som ett LIMS för SiCell ska uppfylla och en sammanställning av tillgängliga mjukvaror som bäst uppfyller dessa krav. Screensaver, MISO och Gnomex är de tre gratisprogram med öppen källkod som hamnade högst upp i listan. Inget av dem uppfyller alla krav men med modifieringar av programmerare tros detta vara möjligt. SiCell bad också om lägre prioriterade undersökningar av några av de metoder som används inom plattformen. Cellysering, Alternativa amplifieringsmetoder och transkriptomik har undersökts av projektgruppen. Detta resulterade i en sammanställning av vilka alternativ som finns och vad som är under utveckling inom respektive område.

Philosophiae Doctor - PhD / A laboratory information management system (LIMS) is central to the informatics infrastructure that underlies biobanking activities. To date, a wide range of commercial and open source LIMS are available. The decision to opt for one LIMS over another is often influenced by the needs of the biobank clients and researchers, as well as available financial resources. However, to find a LIMS that incorporates all possible requirements of a biobank may often be a complicated endeavour. The need to implement biobank standard operation procedures as well as stimulate the use of standards for biobank data representation motivated the development of Baobab LIMS, an open source LIMS for Biobanking. Baobab LIMS comprises modules for biospecimen kit assembly, shipping of biospecimen kits, storage management, analysis requests, reporting, and invoicing. Baobab LIMS is based on the Plone web-content management framework, a server-client-based system, whereby the end user is able to access the system securely through the internet on a standard web browser, thereby eliminating the need for standalone installations on all machines. The Baobab LIMS components were tested and evaluated in three human biobanks. The testing of the LIMS modules aided in the mapping of the biobanks requirements to the LIMS functionalities, and furthermore, it helped to reveal new user suggestions, such as the enhancement of the online documentation. The user suggestions are demonstrated to be important for both LIMS strengthen and biobank sustainability. Ultimately, the practical LIMS evaluations showed the ability of Boabab LIMS to be used in the management of human biobanks operations of relatively different biobanking workflows.

Excel is a great tool, however it has its flaws. Files quickly become slow as they increase in size, and Excel has no built-in feature to easily search through several documents for a specific word, phrase or value. This can be resolved through a LIMS, a Laboratory Information Management System, which is a database solution that can be used to store and trace laboratory data and information. Our task was to evaluate what system requirements the company Olink Proteomics AB has for a LIMS. By interviewing several departments at Olink, we gained information about what each group wanted from such a system and condensed it into a needs assessment. The interviews showed that traceability was needed for every single department, as well as having easy features for adding data into the system. We were also tasked by Olink to research which Swedish laws apply to old patient data, as the company wants to reuse the data for R&D. Our conclusions are that if data is made fully anonymous, there are no issues in using it for R&D. However, this can be difficult as many criteria have to be fulfilled in order for the data to become fully anonymous.

Magister Scientiae - MSc (Bioinformatics) / Biobanks are collections of biological samples and associated data for future use. The day to day activities in a biobank laboratory is underpinned by a laboratory information management system (LIMS). For example, the LIMS manages the execution of tests on biospecimens and track their movement and processing through the laboratory. There are a range of commercially available Biobank LIMS systems on the market but their costs are prohibitive in a resource limited setting. The cost of Commercial off-the-shelf software includes the initial cost of acquiring the system, as well as the cost of maintenance and support throughout the software's life cycle. The Bika LIMS system on the other hand is Free and open source software (FOSS) with decreased license cost, used routinely in non-medical laboratories. Ideally, if Bika LIMS could be customised to handle human biospecimens, then both biobanks and genetics laboratories could benefit. Central to any biobank functionality in Bika LIMS is the ability to import information from routine biomedical equipment. We identified two instruments that are key to human biobanking and are lacking in Bika LIMS namely BioDrop ?LITE and the Qubit Fluorometric instrument. Import interfaces for importing DNA/RNA concentration analyses from these instruments and management of the results with associated sample information would add value to the LIMS. The aim of the thesis was to customise Bika LIMS for utility in a biomedical laboratory. In collaboration with colleagues at Tygerberg medical school, the Bika LIMS software was customised to accommodate the DNA and RNA concentration analyses results for a pathology laboratory and the LIMS workflows customised for use at Tygerberg medical school. In this process the manual operations of Tygerberg medical school laboratory would migrate to the use of Bika LIMS. The analytical module in Bika LIMS was implemented using PYTHON, by using logic that allows importing of specific analyses. A template was created for the BioDrop ?LITE and Qubit Fluorometric instruments used for developing the interface for an analysis import form. The instruments generate results in CSV file format. A parser was created to read and parse the files uploaded from the import form, by splitting them into parts, extracting the data, and populating key-value pairs. The controller manages the submission of the form by initialising the parser that imports the specific file into the LIMS where it is managed by the configured Bika LIMS workflow.

Indiana University-Purdue University Indianapolis (IUPUI) / Proof of Concept - An Academic LIMS application: The aim of this project is the creation of an open-source, freeware LIMS application that can be used in an academic setting as a teaching tool for both chemistry and computer science students. The LIMS package will combine an application, developed using VB.NET, to manage the data with other open-source or freeware programs such as MySQL and WEKA. The numerous commercial chemical informatics applications available are useful tools to learn how to manage data from a user's standpoint. However, they are not readily available to the average student, nor do they offer a great understanding into how they were developed from a programmer's frame of mind. There is a great void here that, if filled can greatly help the academic community.

L'objectif de mon travail de thèse était de développer des outils bio informatiques permettant d'améliorer la traditionnelle gestion de l'information scientifique au sein d'un grand centre de recherche et en particulier au sein d'une plateforme de génomique. Trois outils ont été développés: un cahier de laboratoire électronique, un système de gestion de l'information de laboratoire pour des applications de génomique dont le séquençage de nouvelle génération, ainsi qu'un système de gestion des échantillons pour de grandes bio-banques. Ce travail a été réalisé en étroite collaboration avec des biologistes, épidémiologistes et informaticiens. Il a également inclus la mise en place d'interactions entre les différents outils pour former un système informatique intégré. Les trois outils ont été rapidement adoptés par l'ensemble des scientifiques du centre de recherche et sont désormais utilisés au quotidien pour le suivi de toutes les activités de laboratoire mais aussi plus globalement pour les autres activités scientifiques du centre de recherche. Ces outils sont transposables dans d'autres instituts de recherche / The aim of my thesis work was to develop bioinformatics tools to improve the traditional scientific information management within a large research centre and especially within a genomics platform. Three tools have been developed: an electronic laboratory notebook, a laboratory information management system for genomics applications including next generation sequencing, as well as a sample management system for large biobanks. This work has been conducted in close collaboration with biologists, epidemiologists and IT specialists. It has also included the setup of interactions between the different tools to make an integrated IT system. The three tools have been rapidly adopted by all the scientists of the research centre and are now daily used for the tracking of all the laboratory’s activities but also more globally for the research centre’s other scientific activities. These tools are transposable in other research institutes

Indiana University-Purdue University Indianapolis (IUPUI) / A Laboratory Information Management Systems (LIMS) is designed to manage laboratory processes and data. It has the ability to extend the core functionality of the LIMS through configuration tools and add-on modules to support the implementation of complex laboratory workflows. The purpose of this project is to demonstrate how laboratory data and processes from a complex workflow can be implemented using a LIMS. Genomic samples have become an important part of the drug development process due to advances in molecular testing technology. This technology evaluates genomic material for disease markers and provides efficient, cost-effective, and accurate results for a growing number of clinical indications. The preparation of the genomic samples for evaluation requires a complex laboratory process called the precision aliquotting workflow. The precision aliquotting workflow processes genomic samples into precisely created aliquots for analysis. The workflow is defined by a set of aliquotting scheme attributes that are executed based on scheme specific rules logic. The aliquotting scheme defines the attributes of each aliquot based on the achieved sample recovery of the genomic sample. The scheme rules logic executes the creation of the aliquots based on the scheme definitions. LabWare LIMS is a Windows® based open architecture system that manages laboratory data and workflow processes. A LabWare LIMS model was developed to implement the precision aliquotting workflow using a combination of core functionality and configured code.