University of Haifa

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...

A new definition for metabolic dysfunction-associated fatty liver disease: An international expert consensus statement

Forest before trees: The precedence of global features in visual perception

Reasons for confidence.

A structural variation reference for medical and population genetics

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

Image space shading of 3-dimensional objects

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