Translational software infrastructure for medical genetics

van der Velde, K., 2018, [Groningen]: Rijksuniversiteit Groningen. 325 p.

Research output: ThesisThesis fully internal (DIV)

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Deep inside the core of our cells resides the deoxyribonucleic acid (DNA) molecule known as the genome.
DNA encodes the information that allows life to grow, survive, diversify and evolve.
Unfortunately, the same mechanisms that let us adapt to a changing environment can also cause genetic disorders.
While we are able to diagnose a number of these disorders using modern technological advancements, much remains to be discovered and understood.
This thesis presents software infrastructure for investigating the molecular etiology of genetic disease using data from model organisms, demonstrates how to translate findings from fundamental research into new software tools for genome diagnostics, and introduces a downstream genome analysis framework that assists the automation and validation of the latest tools for applied patient care.
We first develop data models and software to help determine which region of the genome is responsible for diseases and other physical traits.
We then extend these principles towards model organisms.
By using molecular similarities, we discover new ways to use nematodes for research into human diseases.
Additionally, we can use our knowledge of the genome and evolution to predict how pathogenic new mutations are.
The result is a public website where DNA can be scanned quickly and accurately for probable pathogenic mutations.
Finally, we present a complete system for automated DNA analysis, including a protocol specific for genome diagnostics to produce clear patient reports for medical experts with which a diagnosis is made faster and easier.
Translated title of the contributionTranslationele software infrastructuur voor medische genetica
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
Award date8-Jan-2018
Place of Publication[Groningen]
Print ISBNs978-94-034-0351-9
Electronic ISBNs978-94-034-0350-2
Publication statusPublished - 2018

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