The Rare Variant Working Group (WG)
WG purpose and aims
With MEGASTROKE/GIGASTROKE and many other ongoing projects in ISGC working groups, the influence of common variants on stroke risk has been thoroughly evaluated. However, the influence of rare variants on stroke risk has not been studied in that amount of detail, mostly due to small sample sizes.
In the WG, we want to collect samples and provide guidance for rare variant projects and analyses, in a very similar way how MEGASTROKE/GIGASTROKE were designed.
What does the WG do?
We collect information on samples with WES/WGS available. We provide guidance forISGCmembers planning a WES/WGS study. We produce example pipelines that individual groups can follow.
Past successes/output
As this is a newly established working group, we have not had output so far, but expect many publications in the future.
WG lead
Rainer Malik, Martin Dichgans, Guillaume Pare, Michael Chong, Israel Fernandes-Cadenas
Reach us via this link!