Bachelor thesis

A Platform for the Analysis of Polygenic Risk Scores

Annotation

Modern biomedical technologies initiated a rapid growth of knowledge about the human genome and its variability. Associations between the genome of an individual and his predisposition to various diseases are emerging. However, the evaluation of such genomic information is problematic for clinical geneticists without knowledge of data analysis. Student will collect publicly available data sources about causative genetic variations, their impact, severity, and representation in selected populations (Slovak, European, African, etc.). Then, he will compare several published approaches to combining individual risk scores into an overall score. Finally, he will prepare an application for clinical geneticists and verify its accuracy on clinical data.

Author

Mário Hlavačka

Supervisor

doc. Mgr. Tomáš Vinař, PhD.

Consultant

Mgr. Jaroslav Budiš, PhD.

Diary

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References

Introduction

Mathematics for predicting risk scores

PRS guidelines