Journal article

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L Heinzen, Ryan S Dhindsa, Kate E Stanley, Gianpiero L Cavalleri, Hakon Hakonarson, Ingo Helbig, Roland Krause, Patrick May Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2019


Awarded by NHGRI

Awarded by National Institutes of Health

Funding Acknowledgements

We gratefully thank the Epi25 principal investigators, local staff from individual cohorts, and all of the individuals with epilepsy who participated in the study for making possible this global collaboration and resource to advance epilepsy genetics research. This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG research activities at the Broad Institute were supported by NHGRI grant UM1 HG008895. The Genome Sequencing Program efforts were also supported by NHGRI grant 5U01HG009088-02. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. A supplemental grant for Epi25 phenotyping was supported by "Epi25 Clinical Phenotyping R03," National Institutes of Health (1R03NS108145-01), with D.H.L. and S.F.B. as the principal investigators. Additional funding sources and acknowledgment of individual case and control cohorts were listed in the Supplemental Data. We thank the Stanley Center for Psychiatric Research at the Broad Institute for supporting sequencing effort and control sample aggregation. The authors would like to thank the DiscovEHR collaboration of Geisinger Health System and Regeneron for providing exome variant data for comparison. We also thank Sali Farhan, Kyle Satterstrom, and Chai-Yen Chen for helpful discussions, Nick Watts and Matthew Solomonson for browser development, and the Hail team for analysis support.