A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population
Jayne Y. Hehir-Kwa, Tobias Marschall, Wigard P. Kloosterman, Laurent C. Francioli, Jasmijn A. Baaijens, Louis J. Dijkstra, Abdel Abdellaoui, Vyacheslav Koval, Djie Tjwan Thung, René Wardenaar, Ivo Renkens, Bradley P. Coe, Patrick Deelen, Joep de Ligt, Eric-Wubbo Lameijer, , Victor Guryev
This study creates a high-quality reference panel of structural variants from 769 Dutch individuals, revealing new variants and their linkage to known SNPs, improving imputation accuracy for genome-wide association studies.
bioRxiv · Jul 2, 2016 · PreprintGenetics