Publications associées à Héritabilité

Weak correlations between visual abilities in healthy older adults, despite long-term performance stability

Using batteries of visual tests, most studies have found that there are only weak correlations between the performance levels of the tests. Factor analysis has confirmed these results. This means that a participant excelling in one test may rank low in ano ...

2024

The cost of adaptability: resource availability constrains functional stability under pulsed disturbances

Hannes Markus Peter

Global change exposes ecosystems to changes in the frequency, magnitude, and concomitancy of disturbances, which impact the composition and functioning of these systems. Here, we experimentally evaluate the effects of salinity disturbances and eutrophicati ...

Amer Soc Microbiology2024

Wide-scale identification of novel/eliminated genes responsible for evolutionary transformations

Daria Korotkova

BackgroundIt is generally accepted that most evolutionary transformations at the phenotype level are associated either with rearrangements of genomic regulatory elements, which control the activity of gene networks, or with changes in the amino acid conten ...

2023

DNA methylation sites in early adulthood characterised by pubertal timing and development: a twin study

Markus Kirolos Youssef

Background Puberty is a highly heritable and variable trait, with environmental factors having a role in its eventual timing and development. Early and late pubertal onset are both associated with various diseases developing later in life, and epigenetic c ...

BMC2023

Tangent functional connectomes uncover more unique phenotypic traits

Enrico Amico, Mingkui Wang

Functional connectomes (FCs) containing pairwise estimations of functional couplings between pairs of brain regions are commonly represented by correlation matrices. As symmetric positive definite matrices, FCs can be transformed via tangent space projecti ...

CELL PRESS2023

Identifying genetic and dietary modulators of metabolic disorders using systems genetics

Xiaoxu Li

Long-term consumption of lipid-rich foods can contribute to common metabolic diseases and systemic low-grade inflammation. However, dietary responses and the development of non-communicable diseases are shaped by genetic factors and gene-by-environment int ...

EPFL2023

A Phylogeny-aware GWAS Framework to Correct for Heritable Pathogen Effects on Infectious Disease Traits

Jacques Fellay, Christian Axel Wandall Thorball

Infectious diseases are particularly challenging for genome-wide association studies (GWAS) because genetic effects from two organisms (pathogen and host) can influence a trait. Traditional GWAS assume individual samples are independent observations. Howev ...

OXFORD UNIV PRESS2022

Towards mouse genetic-specific RNA-sequencing read mapping

Maxime Jan, Ioannis Xenarios

Genetic variations affect behavior and cause disease but understanding how these variants drive complex traits is still an open question. A common approach is to link the genetic variants to intermediate molecular phenotypes such as the transcriptome using ...

2022

A platform for experimental precision medicine: The extended BXD mouse family

Johan Auwerx, Evan Graehl Williams

The challenge of precision medicine is to model complex interactions among DNA variants, phenotypes, development, environments, and treatments. We address this challenge by expanding the BXD family of mice to 140 fully isogenic strains, creating a uniquely ...

CELL PRESS2021

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Jacques Fellay, John Wilson, Yang Luo, Xinyi Li

A high-resolution reference panel based on whole-genome sequencing data enables accurate imputation of HLA alleles across diverse populations and fine-mapping of HLA association signals for HIV-1 host response. ...

NATURE PORTFOLIO2021

The genetic architecture of complex human traits at the dawn of genomic medicine

Olivier Noël Marie Naret

The focus of the work presented in this thesis is the exploration of the genetic architecture of complex human traits - at the dawn of genomic medicine. The underlying mechanisms explaining the enormously polygenic nature of most human complex traits are ...

EPFL2021

Microfluidic culture platforms for C. elegans bacterial interaction and digestion studies at single-organism resolution

Vittorio Viri

Increasing interest in understanding fundamental biological processes, among which aging and nutrition, has led to the study of simple and powerful model organisms, as the round-worm Caenorhabditis elegans (C. elegans). The nematode, selected by Sydney Bre ...

EPFL2021

Spatial areas of genotype probability: Predicting the spatial distribution of adaptive genetic variants under future climatic conditions

Stéphane Joost, Oliver Michele Selmoni, Estelle Rochat

In a context of rapid global change, one of the key components for the survival of species is their genetic evolutionary potential for adaptation. Many methods have been developed to identify genetic variants underpinning adaptation to climate, but few too ...

2021

Confounding factors from inducible systems for spatiotemporal gene expression regulation

Johan Auwerx, Richardus Houtkooper

Spatiotemporally regulated targeted gene manipulation is a common way to study the effect of gene variants on phenotypic traits, but the Cre/loxP and Tet-On/Tet-Off systems can affect whole-organism physiology and function due to off-target effects. We hig ...

Rockefeller University Press2020

A fully joint Bayesian quantitative trait locus mapping of human protein abundance in plasma

Anthony Christopher Davison, Hélène Ruffieux, Jörg Hager, Radu Popescu

Molecular quantitative trait locus (QTL) analyses are increasingly popular to explore the genetic architecture of complex traits, but existing studies do not leverage shared regulatory patterns and suffer from a large multiplicity burden, which hampers the ...

PUBLIC LIBRARY SCIENCE2020

Comprehensive analysis of PM20D1 QTL in Alzheimer's disease

Johannes Gräff, Liliane Glauser, Jose Vicente Sanchez Mut

Background Alzheimer's disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not ind ...

2020

Genetic spectrum of retinal dystrophies in Tunisia

Imen Habibi

We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype-phenotype correlations. A subset of 26 families from a cohort of 73 f ...

Nature Research2020

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Imen Habibi

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with bial ...

2019

Systems genetics approaches to probe gene function

Hao Li

Genes are the functional units of heredity. However, the functions of many genes remain unknown, which impedes the understanding of the underlying mechanism of complex traits and diseases. Systems genetics approaches try to understand the complexity underl ...

EPFL2019

Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients

Imen Habibi

Background Retinitis pigmentosa (RP) affects 2.5 million people worldwide. Increased identification of causative gene defects and the increasing possibility of treatment necessitates better knowledge of phenotype-genotype correlations to help identify pati ...

2019