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.

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Delaneau O et al. Accurate, scalable and integrative haplotype estimation. Nature Communications