Publications

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Author Title [ Year(Asc)]
Filters: Author is Li, Xin and Keyword is Genetic Variation  [Clear All Filters]
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).
2020
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
2019
Frésard, L. et al. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25, 911-919 (2019).
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).