Publication

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Publications associées (31)

Direct coupling analysis of epistasis in allosteric materials

Matthieu Wyart, Riccardo Ravasio, Barbara Bravi, Carolina Brito Carvalho dos Santos

In allosteric proteins, the binding of a ligand modifies function at a distant active site. Such allosteric pathways can be used as target for drug design, generating considerable interest in inferring them from sequence alignment data. Currently, differen ...

2020

HLA Heterozygote Advantage against HIV-1 Is Driven by Quantitative and Qualitative Differences in HLA Allele-Specific Peptide Presentation

Jacques Fellay

Pathogen-mediated balancing selection is regarded as a key driver of host immunogenetic diversity. A hallmark for balancing selection in humans is the heterozygote advantage at genes of the human leukocyte antigen (HLA), resulting in improved HIV-1 control ...

OXFORD UNIV PRESS2020

cis-regulatory variation modulates susceptibility to enteric infection in the Drosophila genetic reference panel

Michael Vincent Frochaux, Bart Deplancke, Dani Osman, Maroun Bou Sleiman, Tommaso Andreani, Riccardo Dainese, Virginie Sandra Braman, Vincent Roland Julien Gardeux, Maria Litovchenko, Brian Dennis Hollis

Background: Resistance to enteric pathogens is a complex trait at the crossroads of multiple biological processes. We have previously shown in the Drosophila Genetic Reference Panel (DGRP) that resistance to infection is highly heritable, but our understan ...

2020

Feature Learning of Virus Genome Evolution With the Nucleotide Skip-Gram Neural Network

Hyunjin Shim

Recent studies reveal that even the smallest genomes such as viruses evolve through complex and stochastic processes, and the assumption of independent alleles is not valid in most applications. Advances in sequencing technologies produce multiple time-poi ...

2019

Elucidating regulatory mechanisms shaping the transcriptome and proteome of the gut immune response in Drosophila melanogaster

Michael Vincent Frochaux

Work on Drosophila melanogaster paved the way to our current understanding of modern genetics. Since then, this model organism has contributed greatly to various fields such as neurobiology, development, and immunology. The discovery and analysis of the va ...

EPFL2019

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

Human transforming growth factor beta-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cel ...

2019

Large-scale variational inference for Bayesian joint regression modelling of high-dimensional genetic data

Hélène Ruffieux

Genetic association studies have become increasingly important in understanding the molecular bases of complex human traits. The specific analysis of intermediate molecular traits, via quantitative trait locus (QTL) studies, has recently received much atte ...

EPFL2019

The Detection of Early Epigenetic Inheritance of Mitochondrial Stress in C. Elegans with a Microfluidic Phenotyping Platform

Martinus Gijs, Johan Auwerx, Matteo Cornaglia, Hüseyin Baris Atakan

Fluctuations and deterioration in environmental conditions potentially have a phenotypic impact that extends over generations. Transgenerational epigenetics is the defined term for such intergenerational transient inheritance without an alteration in the D ...

Nature Research2019

Lean synthesis and application to lower-limb exoskeletons

Tristan Hubert Vouga

Mobility impairments are the most prevalent of all disabilities, affecting the life of nearly one in 20 individuals in developed countries. In the most severe cases, they can have dramatic consequences for the social, mental and physical well-being of thos ...

EPFL2019

Mechanistic insights into AMP-activated protein kinase-dependent gene expression

Caterina Collodet

AMP-activated protein kinase (AMPK) is a fundamental enzyme that controls energy homeostasis, through orchestrating the cellular response to a reduction in energy availability. Under conditions of cellular energy stress AMPK senses the decrease in ATP leve ...

EPFL2019

Predicting the Occurrence of Variants in RAG1 and RAG2

Jacques Fellay, Flavia Aurelia Shoko Hodel, Dylan Lawless

While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an inability to predict clinically ...

2019