Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach

@inproceedings{MartnezBueno2019ExploringIO,
  title={Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach},
  author={Manuel Mart{\'i}nez-Bueno and Marta E. Alarc{\'o}n-Riquelme},
  booktitle={Front. Immunol.},
  year={2019}
}
The importance of low frequency and rare variation in complex disease genetics is difficult to estimate in patient populations. Genome-wide association studies are therefore, underpowered to detect rare variation. We have used a combined approach of genome-wide-based imputation with a highly stringent sequence kernel association (SKAT) test and a case-control burden test. We identified 98 candidate genes containing rare variation that in aggregate show association with SLE many of which have… CONTINUE READING
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