Gene mining the Collaborative Cross for novel molecular determinants of dento-skeletal homeostasis and disease

Research output: ThesisDoctoral Thesis

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Abstract

The Collaborative Cross (CC) is a purpose-built community resource with the aim to improve our knowledge and understanding of human diseases. The principal aims of this project are to investigate the dental and skeletal fields of the CC and to identify novel molecular determinants of their related disease. The Gene Mine CC population fields were screened using X-ray and micro-CT. A novel hypodontia phenotype of mouse was discovered, for which candidate genes with single nucleotide polymorphisms were identified using quantitative trait loci mapping. Additionally, diagnostic genetic testing of a rare human clinical case was performed using next generation sequencing.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Xu, Jiake, Supervisor
  • Morahan, Grant, Supervisor
  • Tickner, Jennifer, Supervisor
Thesis sponsors
Award date17 Jan 2022
DOIs
Publication statusUnpublished - 2022

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