Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Genetic Variation and Author is Li, Xin  [Clear All Filters]
2017
Li, X. et al. The impact of rare variation on gene expression across tissues. Nature 550, 239-243 (2017).
Pala, M. et al. Population- and individual-specific regulatory variation in Sardinia. Nat Genet 49, 700-707 (2017).
2019
Frésard, L. et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25, 911-919 (2019).
2020
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
2021
Bonder, M. Jan et al. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet 53, 313-321 (2021).