University of Parma

Sarcopenia: revised European consensus on definition and diagnosis

EWGSOP2's updated recommendations aim to increase awareness of sarcopenia and its risk. With these new recommendations, EWGSOP2 calls for healthcare professionals who treat pati...

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...

Ab initio study of solvated molecules: a new implementation of the polarizable continuum model

Remarks on the use of the apparent surface charges (ASC) methods in solvation problems: Iterative versus matrix‐inversion procedures and the renormalization of the apparent charges

Abstract We present a formal and numerical comparison between the iterative and matrix‐inversion approaches of the polarizable continuum model. The formal analysis shows complet...

A structural variation reference for medical and population genetics

A fronto‐parietal circuit for object manipulation in man: evidence from an fMRI‐study

Abstract Functional magnetic resonance imaging (fMRI) was used to localize brain areas active during manipulation of complex objects. In one experiment subjects were required to...

Transcript expression-aware annotation improves rare variant interpretation

Modulation of vitronectin receptor binding by membrane lipid composition.

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 ...