Publications related to Copy number variation

Development of multiplexed single-molecule imaging techniques to study chromatin invasion dynamics of chromatin effector proteins

DNA-binding proteins physically interact with the DNA and directly affect genomic functions. The eukaryotic genome is compacted into chromatin, limiting the DNA access to nuclear factors. In this Ph.D. thesis, I explored the dynamic mechanisms, that allow ...

EPFL2023

KRAB zinc finger proteins link heterochromatin maintenance to replicative stress and inflammation in diffuse large B-cell lymphoma

Filipe Amândio Brandão Sanches Vong Martins

Genomic instability enhances cancer progression by favoring clonal diversity, yet uncontrolled replicative stress can lead to mitotic catastrophe and inflammatory responses promoting immune rejection. KRAB-containing zinc finger proteins (KZFPs) are epigen ...

EPFL2023

The interplay between human genetic variation, chronic inflammation and persistent infection: relevance for cardiovascular morbidity

Flavia Aurelia Shoko Hodel

Contemporary genomic approaches allow us to seek answers to biological questions that were previously out of reach. Genome-wide association studies (GWAS) have identified numerous genetic polymorphisms associated with human diseases, providing new insight ...

EPFL2022

Genomic Instability Profiles at the Single Cell Level in Mouse Colorectal Cancers of Defined Genotypes

Maxim Norkin, Jörg Hülsken, Paloma Ordonez Moran

The genomes of many human CRCs have been sequenced, revealing a large number of genetic alterations. However, the molecular mechanisms underlying the accumulation of these alterations are still being debated. In this study, we examined colorectal tumours t ...

2021

Intestinal stem cells differentiation and its application in cancer therapy

Maxim Norkin

Colorectal cancer (CRC) is one of the deadliest cancers worldwide. Despite extensive research in the field, new therapies targeting CRC are in urgent need. CRC is a highly heterogeneous disease with high levels of intra- and inter-patient heterogeneity. Ca ...

EPFL2021

Phenotypic plasticity versus ecotypic differentiation under recurrent summer drought in two drought-tolerant pine species

Christoph Bachofen

Despite worldwide reports of high tree mortality, growing evidence indicates that many tree species are well adapted to survive repeated dry spells. The drought resilience of trees is related to their phenotypic plasticity and ecotypic differentiation. Whe ...

WILEY2021

Genomic Analysis of European Drosophila melanogaster Populations Reveals Longitudinal Structure, Continent-Wide Selection, and Previously Unknown DNA Viruses

Bart Deplancke

Genetic variation is the fuel of evolution, with standing genetic variation especially important for short-term evolution and local adaptation. To date, studies of spatiotemporal patterns of genetic variation in natural populations have been challenging, a ...

2020

Common Gene Expression Patterns in Environmental Model Organisms Exposed to Engineered Nanomaterials: A Meta-Analysis

Kristin Schirmer, Anze Zupanic

The use of omics is gaining importance in the field of nanoecotoxicology; an increasing number of studies are aiming to investigate the effects and modes of action of engineered nanomaterials (ENMs) in this way. However, a systematic synthesis of the outco ...

AMER CHEMICAL SOC2020

MicroRNA-204-5p modulates mitochondrial biogenesis in C2C12 myotubes and associates with oxidative capacity in humans

Xu Wang

Using an unbiased high-throughput microRNA (miRNA)-silencing screen combined with functional readouts for mitochondrial oxidative capacity in C2C12 myocytes, we previously identified 19 miRNAs as putative regulators of skeletal muscle mitochondrial metabol ...

2020

Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer

Paul Refinetti, Per Olaf Ekstrom

Primary prostate tumor heterogeneity is poorly understood, leaving research efforts with challenges regarding the initiation and advancement of the disease. The growth of tumor cells is accompanied by mutations in nuclear and in mitochondrial genomes. Thus ...

HINDAWI LTD2020

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 ...

2019

Effect of Fc Receptor Genetic Diversity on HIV-1 Disease Pathogenesis

Jacques Fellay, Christian Axel Wandall Thorball

Fc receptor (FcR) genes collectively have copy number and allelic polymorphisms that have been implicated in multiple inflammatory and autoimmune diseases. This variation might also be involved in etiology of infectious diseases. The protective role of Fc- ...

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

Functional analysis of the telomeric long non-coding RNA TERRA

Patricia Renck Nunes

Telomeres are nucleoprotein structures present in the end of linear chromosomes. In humans, a core complex of 6 proteins cap and protect the chromosome ends from being recognized as double-strand breaks and eliciting unwanted DNA damage and repair response ...

EPFL2019

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

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

On the Analysis of Intrahost and Interhost Viral Populations: Human Cytomegalovirus as a Case Study of Pitfalls and Expectations

Jeffrey David Jensen, Sebastian Matuszewski, Susanne Petra Pfeifer

Intrahost and interhost assessments of viral diversity are often treated as measures of separate and distinct evolutionary processes, with numerous investigations reporting seemingly incompatible results between the two. For example, in human cytomegalovir ...

American Society for Microbiology2017

No Evidence for Association of beta-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS

Jacques Fellay, Paul Jack Mc Laren

Common single-nucleotide variation in the host accounts for 25% of the variability in the plasma levels of HIV during the clinical latency stage (viral load set point). However, the role of rare variants and copy number variants remains relatively unexplor ...

Wiley-Blackwell2017

Identification of the inactivating factors and mechanisms exerted on MS2 coliphage in concentrated synthetic urine

Tamar Kohn, Loïc Decrey

Volume reduction (condensation) is a key for the practical usage of human urine as a fertilizer because it enables the saving of storage space and the reduction of transportation cost. However, concentrated urine may carry infectious disease risks resultin ...

Elsevier2017

From next-generation resequencing reads to a high-quality variant data set

Susanne Petra Pfeifer

Sequencing has revolutionized biology by permitting the analysis of genomic variation at an unprecedented resolution. High-throughput sequencing is fast and inexpensive, making it accessible for a wide range of research topics. However, the produced data c ...

Nature Publishing Group2017