Evaluating the Application of Allele Frequency in the Saudi Population Variant Detection

Student thesis: Master's Thesis


Human Mendelian disease in Saudi Arabia is both significant and challenging. Next-generation sequencing (NGS) has resulted in important discoveries of the genetic variants responsible for inherited disease. However, the success of clinical genomics using NGS requires accurate and consistent identification of rare genome variants. Rarity is one very important criterion for pathogenicity. Here we describe a model to detect variants by analyzing allele frequencies of a Saudi population. This work will enhance the opportunity to improve variant calling workflow to gain robust frequency estimates in order to better detect rare and unusual variants which are frequently associated with inherited disease.
Date of AwardApr 26 2020
Original languageEnglish (US)
Awarding Institution
  • Computer, Electrical and Mathematical Sciences and Engineering
SupervisorRobert Hoehndorf (Supervisor)


  • variants
  • variant calling
  • saudi genome
  • population
  • mendelians diseases
  • allele frequency

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