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Approved research

Assessing allele phasing algorithms

Principal Investigator: Professor Gerton Lunter
Approved Research ID: 20613
Approval date: June 30th 2016

Lay summary

To identify genetic mutations related to disease, a `genome wide association study` (GWAS) is often conducted. As a technical first step of any such study, it is necessary to assign each heterozygous variant to the paternal or maternal chromosome, a process called `Phasing`. I have developed a new phasing algorithm for large cohorts, and I would like to test this algorithm on the 150,000 genotyped individuals in the UK Biobank. This test would be very similar to that used in, which used the same data set. Health-related, and in the public interest: The proposed project aims to improve a necessary, technical step in GWAS studies. Improvements would make GWAS studies more efficient, and easier to conduct as cohort sizes grow. This would simplify the discovery of disease-related associations with genetic variants, establishing the health connection. The public interest is served by simplifying the research, potentially speeding up and/or reducing the cost of research. I would apply the new algorithm to the data, and compare the results with existing algorithms. This is explained in detail here: I am applying for the full data set of genotypes (152,725 individuals).