Monash University

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Reason: Under embargo until December 2022. After this date a copy can be supplied under Section 51(2) of the Australian Copyright Act 1968 by submitting a document delivery request through your library

Understanding the role of the non-coding genome in congenital heart disease

posted on 2021-12-14, 06:22 authored by GULREZ CHAHAL
Congenital heart disease (CHD) are defects that occur in the heart during development. It is the leading cause of birth defects in babies. However, there is limited knowledge to prevent CHD mainly due to lack of a comprehensive understanding of the causal genetic factors involved. So far, the focus of CHD studies has been mostly on the variants lying in gene-coding regions of the genome. However, a lot of variants lie in the non-coding part of the genome where their functional role is yet to be deciphered. This thesis presents a machine learning method to identify candidate pathogenic non-coding variants in CHD.


Principal supervisor

Mirana Soa Manarivo Ramialison

Additional supervisor 1

Sonika Tyagi

Year of Award


Department, School or Centre

Australian Regenerative Medicine Institute (ARMI)

Campus location



Doctor of Philosophy

Degree Type



Faculty of Medicine, Nursing and Health Sciences