Rare and low-frequency variants and predisposition to complex disease

Thesis

Advances in high-throughput genomic technologies have facilitated the collection of DNA information for thousands of individuals, providing unprecedented opportunities to explore the genetic architecture of complex disease. One important finding has been that the majority of variants in the human genome are low in frequency or rare. It has been hypothesised that recent explosive growth of the human population afforded unexpectedly large amounts of rare variants with potentially deleterious ...

Expand abstract

Authors: Albers, P

• DOI: 10.5287/ora-xq4jzjb0m
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: University of Oxford
• Language: English
• Keywords: Haplotype; Identity by descent; Genomics; Allele age; Complex disease; Genetics; Rare variants
• Subjects: Statistical genetics; Medical genetics; Population genetics; Genomics; Genetics