Web Tool for Clinic Trio Based Sequence Data Analysis to Identify Potential Pathogenic Variants for Rare Genetic Diseases Pubblico

Abstract

An important tool in the diagnosis of rare genetic diseases is whole exome or genome sequencing (WES/WGS). It is believed that many rare genetic diseases are caused by rare variations in the patients’ genome. Typically, clinical WES/WGS is done for patients and their parents in an attempt to find potential pathogenic variations. Advanced bioinformatics skills are needed to analyze these WES/WGS data. Variant annotations about the variant position in a gene, biological functions, and possible pathogenicity need to be referred to from genomic databases. WES/WGS data with variant annotation need to be cleaned, filtered, and presented in a meaningful way. An automated web tool for the processing and analysis of trio-based WES/WGS data could help clinicians diagnose rare genetic diseases. I have developed a workflow process that automatically, which will create a table of possibly pathogenic variants and display the output table alongside the input WES/WGS data in a webtool. The tool makes the process of variant identification and visual review easier and quicker in the diagnosis of rare genetic diseases.

Table of Contents

Abstract...........4

Introduction.....6

Methods...........8

Results............15

Discussion.......20

Appendix A......24

References.......28

About this Master's Thesis

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School	Rollins School of Public Health
Department	Epidemiology
Subfield / Discipline	Epidemiology - MPH & MSPH
Degree	M.P.H.
Submission	Master's Thesis
Language	English
Research Field	Biology, Genetics Health Sciences, Epidemiology
Parola chiave	Whole Exome Sequencing Rare disease Variant
Committee Chair / Thesis Advisor	Dr. Anke Huels, Emory University
Committee Members	Dr. Jingjing Yang, Emory University

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