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Concept

Mendelian inheritance

Related publications (28)

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Jacques Fellay

BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvac ...

BMC2023

Impact of population size on early adaptation in rugged fitness landscapes

Anne-Florence Raphaëlle Bitbol, Richard Marie Servajean

Owing to stochastic fluctuations arising from finite population size, known as genetic drift, the ability of a population to explore a rugged fitness landscape depends on its size. In the weak mutation regime, while the mean steady-state fitness increases ...

ROYAL SOC2023

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 Research2022

How Vibrio cholerae adapts to the environment: from cell shape transitions to antagonistic behavior

Leonardo Filipe Lemos Rocha

The bacterium Vibrio cholerae is the causative agent of the diarrheal disease cholera, which affects millions of people every year. Apart from being a human pathogen, V. cholerae is also a common member of aquatic habitats. Whilst the mechanism that allow ...

EPFL2022

Systematic screening of viral and human genetic variation identifies antiretroviral resistance and immune escape link

Jacques Fellay, Christian Axel Wandall Thorball

Background: Considering the remaining threat of drug-resistantmutations (DRMs) to antiretroviral treatment (ART) efficacy, we investigated how the selective pressure of human leukocyte antigen (HLA)-restricted cytotoxic T lymphocytes drives certain DRMs' e ...

2021

Histone acetylation dynamics modulates chromatin conformation and allele-specific interactions at oncogenic loci

Elisa Oricchio, Daniele Tavernari, Natalya Katanayeva, Stephanie Jocelyne Sungalee, Ruxandra-Andreea Lambuta

In cancer cells, enhancer hijacking mediated by chromosomal alterations and/or increased deposition of acetylated histone H3 lysine 27 (H3K27ac) can support oncogene expression. However, how the chromatin conformation of enhancer-promoter interactions is a ...

2021

Polygenic modelling of treatment effect heterogeneity

Zhi Ming Xu

Mendelian randomization is the use of genetic variants to assess the effect of intervening on a risk factor using observational data. We consider the scenario in which there is a pharmacomimetic (i.e., treatment-mimicking) genetic variant that can be used ...

2020

The Gene-Regulatory Footprint of Aging Highlights Conserved Central Regulators

Johan Auwerx, Maroun Bou Sleiman, Richardus Houtkooper, Xu Wang, Pooja Jha

Many genes and pathways have been linked to aging, yet our understanding of underlying molecular mechanisms is still lacking. Here, we measure changes in the transcriptome, histone modifications, and DNA methylome in three metabolic tissues of adult and ag ...

2020

Single-Cell Tracing Dissects Regulation of Maintenance and Inheritance of Transcriptional Reinduction Memory

Sebastian Maerkl, Johannes Becker

Transcriptional memory of gene expression enables adaptation to repeated stimuli across many organisms. However, the regulation and heritability of transcriptional memory in single cells and through divisions remains poorly understood. Here, we combined mi ...

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

Discoidin domain receptor 1 gene variants are associated with decreased white matter fractional anisotropy and decreased processing speed in schizophrenia

Erick Jorge Canales Rodriguez

DDR1 has been linked to schizophrenia (SZ) and myelination. Here, we tested whether DDR1 variants in people at risk for SZ influence white matter (WM) structural variations and cognitive processing speed (PS). First, following a case-control design (Study ...

2019

Towards Improved GADT Reasoning in Scala

Aleksander Slawomir Boruch-Gruszecki, Lionel Emile Vincent Parreaux, Paolo Giosuè Giarrusso

Generalized algebraic data types (GADT) have been notoriously difficult to implement correctly in Scala. Both major Scala compilers, Scalac and Dotty, are currently known to have type soundness holes related to them. In particular, covariant GADTs have exp ...

ASSOC COMPUTING MACHINERY2019

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

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Daniel Francis Schorderet

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

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

Strain-level diversity drives alternative community types in millimetre-scale granular biofilms

Christof Holliger

Microbial communities are often highly diverse in their composition, both at a coarse-grained taxonomic level, such as genus, and at a highly resolved level, such as strains, within species. This variability can be driven by either extrinsic factors such a ...

NATURE PUBLISHING GROUP2018

Genetic Determinism vs. Phenotypic Plasticity in Protist Morphology

Bjorn Jozef Maria Robroek, Enrique Lara

Untangling the relationships between morphology and phylogeny is key to building a reliable taxonomy, but is especially challenging for protists, where the existence of cryptic or pseudocryptic species makes finding relevant discriminant traits difficult. ...

Wiley2017

Ecological strategies in stable and disturbed environments depend on species specialisation

Séverine Vuilleumier Varisco

Ecological strategies are integral to understanding species survival in different environments. However, how habitat specialisation is involved in such strategies is not fully understood, particularly in heterogeneous and disturbed environments. Here, we s ...

2016

Alpha7 subunit of the nicotinergic acethylcholine receptor gene (CHRNA7) and perception of coherent motion in aging

Michael Herzog

Genetic variations of the alpha7 subunit of the nicotinergic acetylcholine receptor gene (CHRNA7) are linked to cognitive deficits in aging and schizophrenia. However, little is known about associations of the CHRNA7 gene with aged-related decline in visua ...

2016