Concept

Étude d'association pangénomique

Publications associées (257)

Sex-dependent and sex-independent regulatory systems of size variation in natural populations

Bart Deplancke, Vincent Roland Julien Gardeux, Ernst Hafen

Size of organs/organisms is a polygenic trait. Many of the growth-regulatory genes constitute conserved growth signaling pathways. However, how these multiple genes are orchestrated at the systems level to attain the natural variation in size including sex ...

WILEY2019

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia

Imen Habibi

Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anoph ...

2019

Visual masking deficits in schizophrenia: A view into the genetics of the disease through an endophenotype

Michael Herzog, Jacques Fellay, Maya Roinishvili, Flavia Aurelia Shoko Hodel

Schizophrenia is a chronic disorder determined by a complex mix of genetic and environmental factors. To better understand the contributions of human genetic variation to schizophrenia, we performed a genome-wide association study of a validated endophenot ...

2018

The phenotypic impact of naturally occurring genetic and molecular mitochondrial variation in a Drosophila Genetic Reference Population

Roel Paulus Josephus Bevers

Genome-wide association (GWA) studies aim to dissect the relationship between genotype and phenotype. So far, the focus has been on nuclear genetic determinants as variation in the mitochondrial genome is often low in the study cohorts. Despite this observ ...

EPFL2018

Genome-wide SNP profiling of worldwide goat populations reveals strong partitioning of diversity and highlights post-domestication migration routes

Stéphane Joost, Estelle Rochat, Elia Vajana

Background: Goat populations that are characterized within the AdaptMap project cover a large part of the worldwide distribution of this species and provide the opportunity to assess their diversity at a global scale. We analysed genome-wide 50K single nuc ...

BMC2018

Genetic determinants of healthy human immune variance: from humoral response to microbiome diversity

Petar Scepanovic

Identifying the drivers of the observed interindividual variability of the human immune system is crucial to our understanding of infectious and immune-mediated diseases. The contribution of genetic and non-genetic factors to immunological differences betw ...

EPFL2018

Single-molecule FRET reveals multiscale chromatin dynamics modulated by HP1α

Beat Fierz, Louise Catherine Bryan, Sinan Kilic, Iuliia Boichenko

The dynamic architecture of chromatin fibers, a key determinant of genome regulation, is poorly understood. Here, we employ multimodal single-molecule Förster resonance energy transfer studies to reveal structural states and their interconversion kinetics ...

2018

Combining landscape genomics and ecological modelling to investigate local adaptation of indigenous Ugandan cattle to East Coast fever

Stéphane Joost, Estelle Rochat, Elia Vajana

East Coast fever (ECF) is a fatal sickness affecting cattle populations of eastern, central, and southern Africa. The disease is transmitted by the tick Rhipicephalus appendiculatus, and caused by the protozoan Theileria parva parva, which invades host lym ...

2018

Combining Landscape Genomics and Ecological Modelling to Investigate Local Adaptation of Indigenous Ugandan Cattle to East Coast Fever

Stéphane Joost, Estelle Rochat, Elia Vajana

2018

Coexistence of two distinct Sulfurospirillum populations respiring tetrachloroethene—genomic and kinetic considerations

Christof Holliger, Julien Maillard, Géraldine Florence Buttet, Alexandra Marie Murray, Mélissa Burion

Two anaerobic bacterial consortia, each harboring a distinct Sulfurospirillum population, were derived from a 10 year old consortium, SL2, previously characterized for the stepwise dechlorination of tetrachloroethene (PCE) to cis-dichloroethene (cis-DCE) v ...

FEMS Microbiology Ecology, Vol. 94, Issue 12018

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