Haplotypes are a set of genetic variations that, located side by side on the same chromosome, are transmitted in a single group to the next generation. Their examination makes it possible to understand the heritability of certain complex traits, such as the risk of developing a disease. However, to carry out this analysis, genome analysis of family members (parents and their child) is usually necessary, a tedious and expensive process.
To overcome this problem, researchers from the Universities of Geneva and Lausanne and at SIB, led by Group Leader Olivier Delaneau, have developed SHAPEIT4, a powerful computer algorithm that allows the haplotypes of hundreds of thousands of unrelated individuals to be identified very quickly.
Results are as detailed as when family analysis is performed – a process that cannot be conducted on such a large scale. Their tool is now available online under an open source license, freely available to the entire research community. Details can be discovered in Nature Communications.
Read the full press release in English or French
Reference
Delaneau O et al. Accurate, scalable and integrative haplotype estimation. Nature Communications