Hospital Del Mar

Analysis of protein-coding genetic variation in 60,706 humans

The mutational constraint spectrum quantified from variation in 141,456 humans

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...

Transcriptome and genome sequencing uncovers functional variation in humans

A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial–mesenchymal transition

Expression of Snail1 in epithelial cells triggers an epithelial–mesenchymal transition (EMT). Here, we demonstrate that the synthesis of Zeb2, a transcriptional repressor of E-c...

Transcript expression-aware annotation improves rare variant interpretation

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...

Evaluating drug targets through human loss-of-function genetic variation

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

The effect of LRRK2 loss-of-function variants in humans

Abstract Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be ...