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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

scientific article published on 8 May 2018

Genomic profiling of human vascular cells identifies TWIST1 as a causal gene for common vascular diseases

scientific article published on 09 January 2020

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.

scientific article published on August 2016

PhenomeXcan: Mapping the genome to the phenome through the transcriptome

scientific article published on 10 September 2020

Transcriptomic signatures across human tissues identify functional rare genetic variation

scientific article

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