Browse the research registry public · Customer Self-Service

Research registry ID

Date submitted

Project lead

Title

Build a platform for genetic inference

Community 1

Community 2

Community 3

Description of Research: Objectives, benefits and

We will phase the GEL sequenced samples to generate haplotypes, using a combination of current state-of-the-art and novel methods. The GEL data will contain a very large number of rare, recent mutation variants due to the high coverage sequencing approach used. We will develop new methods that take advantage of this rare variant structure to rapidly identify shared DNA segments. We expect that the resulting panel will facilitate imputation of rare variants down to frequencies 1/10,000 for the first time. As an exemplar application we will carry out imputation of the 500,000 UK Biobank samples and 50,000 Interval study samples. The result imputation reference panel will be used as a resource for other GWAS research groups.

Lay summary

Genotype imputation is central to modern genome wide association studies. We are aiming to build a set of resources for haplotype estimation, genotype imputation and inference of genetic ancestry for human genetics community based on the GEL dataset.

Patient and Public Involvement and Engagement

Support and data requirements

What are your compute requirements?

Collaborations envisaged

Publication of findings

In this section