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Title: Predicting the functional effects of genetic variation
Author: Shihab, Hashem Ali
Awarding Body: University of Bristol
Current Institution: University of Bristol
Date of Award: 2013
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Elucidation of the functional effects of genetic variation within the human genome has the potential to improve our understanding of the molecular mechanisms underlying a plethora of human diseases, as well as leading onto novel diagnostic and therapeutic markers. Technological advances in next-generation sequencing technologies, coupled with the falling costs in whole-genome/ whole-exome sequencing technologies, have led to an explosion of variants being identified for which the functional consequence is unknown. However, characterizing functional variants through lab-based validation has now become time consuming and expensive. Therefore, computational prediction algorithms capable of predicting and/ or prioritizing putative functional variants for further experimentation are assuming ever increasing importance.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available