Concept

Variant of uncertain significance

Related publications (27)

The dynamic genetic determinants of increased transcriptional divergence in spermatids

Cis-genetic effects are key determinants of transcriptional divergence in discrete tissues and cell types. However, how cis- and trans-effects act across continuous trajectories of cellular differentiation in vivo is poorly understood. Here, we quantify al ...

Berlin2024

Current challenges in understanding the role of enhancers in disease

Bart Deplancke

Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing eviden ...

NATURE PORTFOLIO2022

Toward a mechanistic understanding of variable chromatin modules

Gerard Llimos Aubach

Our genome is a long sequence of DNA that contains all the information to be able to constitute a living organism like us, similarly to what the letters in a book do to create a story. This sequence, which is a stretch of molecules called nucleotides, is a ...

EPFL2021

Exploring the interactions between the human and viral genomes

Jacques Fellay

Over the last decade, genome-wide association studies led to major advances in identifying human genetic variants associated with infectious disease susceptibility. On the pathogen side, comparable methods are now applied to identify disease-modulating pat ...

SPRINGER2020

Skeletal muscle enhancer interactions identify genes controlling whole-body metabolism

Johan Auwerx, Martin Rainer Wohlwend

Obesity and type 2 diabetes (T2D) are metabolic disorders influenced by lifestyle and genetic factors that are characterized by insulin resistance in skeletal muscle, a prominent site of glucose disposal. Numerous genetic variants have been associated with ...

2020

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

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

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

Genome-wide gene-based analyses of weight loss interventions identify a potential role for NKX6.3 in metabolism

Patrick Descombes, Sylviane Métairon, Jörg Hager, Hélène Ruffieux, Nele Gheldof

Hundreds of genetic variants have been associated with Body Mass Index (BMI) through genome-wide association studies (GWAS) using observational cohorts. However, the genetic contribution to efficient weight loss in response to dietary intervention remains ...

Springer2019

A comprehensive assessment of demographic, environmental, and host genetic associations with gut microbiome diversity in healthy individuals

Jacques Fellay, Christian Hammer, Flavia Aurelia Shoko Hodel, Petar Scepanovic

Background The gut microbiome is an important determinant of human health. Its composition has been shown to be influenced by multiple environmental factors and likely by host genetic variation. In the framework of the Milieu Interieur Consortium, a total ...

2019

Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in similar to 260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene defect ...

WILEY2019

Analysis of Inherited Optic Neuropathies

Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...

2019

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