Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

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

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

Dapagliflozin in Patients with Chronic Kidney Disease

Among patients with chronic kidney disease, regardless of the presence or absence of diabetes, the risk of a composite of a sustained decline in the estimated GFR of at least 50...

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

In this trial, patisiran improved multiple clinical manifestations of hereditary transthyretin amyloidosis. (Funded by Alnylam Pharmaceuticals; APOLLO ClinicalTrials.gov number,...

A multisociety Delphi consensus statement on new fatty liver disease nomenclature

The principal limitations of the terms NAFLD and NASH are the reliance on exclusionary confounder terms and the use of potentially stigmatising language. This study set out to d...

A structural variation reference for medical and population genetics

A novel risk score to predict cardiovascular disease risk in national populations (Globorisk): a pooled analysis of prospective cohorts and health examination surveys

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