Using Nanopore based sequencing for accurate haplotype resolution

OData support
Sárközy Péter
Department of Measurement and Information Systems

The understanding of the genetic information carried by the human genome became one of the most important tasks of our generation. It is essential to develop the necessary technology, algorithms and sequencing devices to support the interpretation of genetic information. The aim of this work is to investigate the applicability and utility of nanopore-based DNA sequencing, through rigorous experiment design tailored to the characteristics of the Oxford Nanopore Technology (ONT) sequencing platform. The long, high error rate reads produced by the ONT platform require a novel approach to identify mutations, thus identifying haplotypes is a task well suited to this technology. Haplotype results can be directly compared with other studies and they provide valuable insight for the population of certain regions, their ancestry, as well as having utility in the medical field of personalized medicine. In order to use the DNA sequencing results in medical decision support, the gathered measurement data requires pre-processing, statistical analysis and diagnostic deductions by an expert in the field.


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