Journal article
GWASeq: Targeted re-sequencing follow up to GWAS
MP Salomon, WLS Li, CK Edlund, J Morrison, BK Fortini, AK Win, DV Conti, DC Thomas, D Duggan, DD Buchanan, MA Jenkins, JL Hopper, S Gallinger, L Le Marchand, PA Newcomb, G Casey, P Marjoram
BMC Genomics | BMC | Published : 2016
Abstract
Background: For the last decade the conceptual framework of the Genome-Wide Association Study (GWAS) has dominated the investigation of human disease and other complex traits. While GWAS have been successful in identifying a large number of variants associated with various phenotypes, the overall amount of heritability explained by these variants remains small. This raises the question of how best to follow up on a GWAS, localize causal variants accounting for GWAS hits, and as a consequence explain more of the so-called "missing" heritability. Advances in high throughput sequencing technologies now allow for the efficient and cost-effective collection of vast amounts of fine-scale genomic d..
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Grants
Awarded by National Institutes of Health
Funding Acknowledgements
We gratefully acknowledge the help of the Baylor College of Medicine Sequencing Center, numerous helpful conversations with other members of the GWASeq consortium, and, in particular, Lisa Brooks for leading the consortium. We thank the CCFR for providing the samples used in this study and for providing technical assistance. In particular, we thank Allyson Templeton for her unstinting efforts in helping navigate the CCFR system, and the PIs of each of the CCFR centers. We are also grateful to the reviewers for helpful comments on an earlier version of the manuscript. This work was funded primarily funded by NIH award HG005927. Additional funding was provided by award GM103804. Data collection for this work was supported by grant UM1 CA167551 from the National Cancer Institute and through cooperative agreements with the following CCFR centers: Australasian Colorectal Cancer Family Registry (U01 CA074778 and U01/U24 CA097735), Ontario Familial Colorectal Cancer Registry (U01/U24 CA074783), Seattle Colorectal Cancer Family Registry (U01/U24 CA074794), University of Hawaii Colorectal Cancer Family Registry (U01/U24 CA074806) and USC Consortium Colorectal Cancer Family Registry U01/U24 CA074799). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute, National Institute of Health, or any of the collaborating centers in the Colon Cancer Family Registry (CCFR).