Session 4: Heritability, functional enrichment, polygenic scores

session overview

Suggested Readings

Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D. R., Madden, P. A., Heath, A. C., Martin, N. G., Montgomery, G. W., Goddard, M. E., & Visscher, P. M. (2010). Common SNPs explain a large proportion of the heritability for human height. Nature Genetics, 42(7), 565–569.
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011). GCTA: a tool for genome-wide complex trait analysis. American Journal of Human Genetics, 88(1), 76–82.
Bulik-Sullivan, B., Loh, P. R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., Neale, B. M., Corvin, A., Walters, J. T. R., Farh, K. H., Holmans, P. A., Lee, P., Collier, D. A., Huang, H., Pers, T. H., Agartz, I., Agerbo, E., … O’Donovan, M. C. (2015). LD score regression distinguishes confounding from polygenicity in genome-wide association studies. Nature Genetics, 47(3), 291–295.
Finucane, H. K., Bulik-Sullivan, B., Gusev, A., Trynka, G., Reshef, Y., Loh, P.-R., Anttila, V., Xu, H., Zang, C., Farh, K., Ripke, S., Day, F. R., ReproGen Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, RACI Consortium, Purcell, S., Stahl, E., Lindstrom, S., Perry, J. R. B., … Price, A. L. (2015). Partitioning heritability by functional annotation using genome-wide association summary statistics. Nature Genetics, 47(11), 1228–1235.
International Schizophrenia Consortium, Purcell, S. M., Wray, N. R., Stone, J. L., Visscher, P. M., O’Donovan, M. C., Sullivan, P. F., & Sklar, P. (2009). Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature, 460(7256), 748–752.
Vilhjálmsson, B. J., Yang, J., Finucane, H. K., Gusev, A., Lindström, S., Ripke, S., Genovese, G., Loh, P.-R., Bhatia, G., Do, R., Hayeck, T., Won, H.-H., Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study, Kathiresan, S., Pato, M., Pato, C., Tamimi, R., Stahl, E., Zaitlen, N., … Price, A. L. (2015). Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. American Journal of Human Genetics, 97(4), 576–592.