Approved research

Assessing allele phasing algorithms

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 http://biorxiv.org/content/early/2015/12/18/028282, 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: http://biorxiv.org/content/early/2015/12/18/028282 I am applying for the full data set of genotypes (152,725 individuals).