Gene discovery and diagnosis using classical and new genetic tools

Sarah Beecroft

doi:10.26182/bncm-hx34

Gene discovery and diagnosis using classical and new genetic tools

Sarah Beecroft

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

Research output: Thesis › Doctoral Thesis

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Abstract

Neuromuscular diseases are a broad range of heritable diseases which impair voluntary movement. Although the diseases are individually rare, they collectively produce a large disease burden, and accurate diagnosis is challenging. Despite major breakthroughs, a considerable percentage of patients cannot be diagnosed, representing an unmet need in healthcare. I combined next-generation sequencing with classical methods to investigate neuromuscular disease genetics, and improve genetic diagnosis.

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	The University of Western Australia
Supervisors/Advisors	Laing, Nigel, Supervisor Ravenscroft, Gina, Supervisor McLean, Catriona A., Supervisor, External person Davis, Mark, Supervisor
Thesis sponsors	Australian Government Research Training Program
Award date	7 Jun 2020
DOIs	https://doi.org/10.26182/bncm-hx34
Publication status	Unpublished - 2019

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Embargoed from 17/06/2020 to 30/06/2021. Will become publicly available on 30/06/2021.

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10.26182/bncm-hx34

THESIS - DOCTOR OF PHILOSOPHY - BEECROFT Sarah Jane - 2019
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Cite this

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AB - Neuromuscular diseases are a broad range of heritable diseases which impair voluntary movement. Although the diseases are individually rare, they collectively produce a large disease burden, and accurate diagnosis is challenging. Despite major breakthroughs, a considerable percentage of patients cannot be diagnosed, representing an unmet need in healthcare. I combined next-generation sequencing with classical methods to investigate neuromuscular disease genetics, and improve genetic diagnosis.

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Gene discovery and diagnosis using classical and new genetic tools

Abstract

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