Publications related to Gene mapping

Identifying genetic and dietary modulators of metabolic disorders using systems genetics

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

Prioritization of cell types responsive to biological perturbations in single-cell data with Augur

Grégoire Courtine, Jordan Squair, Matthieu Pierre Gautier, Michael Alexander Skinnider

Advances in single-cell genomics now enable large-scale comparisons of cell states across two or more experimental conditions. Numerous statistical tools are available to identify individual genes, proteins or chromatin regions that differ between conditio ...

NATURE RESEARCH2021

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 functional proteome landscape of Escherichia coli

Camille Véronique Bernadette Goemans

Recent developments in high-throughput reverse genetics1,2 have revolutionized our ability to map gene function and interactions3,4,5,6. The power of these approaches depends on their ability to identify functionally associated genes, which elicit similar ...

2020

A synchrotron X-ray imaging strategy to map large animal brains

Giorgio Margaritondo, Ying Chen

Mapping the large neural networks of animal and human brains is a fundamental but so far elusive task, because of the massive amount of data and the consequent prohibitively long image taking and processing times. We developed an effective strategy called ...

2020

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Vincent Meyer

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

A Derived Positional Mapping of Inhibitory Subtypes in the Somatosensory Cortex

Henry Markram, Olivier Burri, Romain Guiet, Julie Meystre, Felix Schürmann, Daniel Keller, Rahul Valiya Veettil

Obtaining a catalog of cell types is a fundamental building block for understanding the brain. The ideal classification of cell-types is based on the profile of molecules expressed by a cell, in particular, the profile of genes expressed. One strategy is, ...

2019

Tissue- and sex-specific small RNAomes reveal sex differences in response to the environment

Pierre Gönczy, Alexandra Bezler, Frédéric Schütz, Laurent Keller, Raffaella Conconi

RNA interference (RNAi) related pathways are essential for germline development and fertility in metazoa and can contribute to inter- and trans-generational inheritance. In the nematode Caenorhabditis elegans, environmental double-stranded RNA provided by ...

2019

Mechanistic insights into AMP-activated protein kinase-dependent gene expression

Caterina Collodet

AMP-activated protein kinase (AMPK) is a fundamental enzyme that controls energy homeostasis, through orchestrating the cellular response to a reduction in energy availability. Under conditions of cellular energy stress AMPK senses the decrease in ATP leve ...

EPFL2019

Method for determining cancer invasiveness and patient prognosis

Douglas Hanahan, Leanne Li

A method for determining the prognosis for survival of a patient having cancer is disclosed, said cancer being altered (i.e. highly activated or alternatively inactive/inhibited) in the NMDAR signalling pathway, said method comprising determining the expre ...

2019

Identifying microbial species by single-molecule DNA optical mapping and resampling statistics

Theo Lasser, Aleksandra Radenovic, Arno Pino Bouwens, Tomas Lukes, Adrien Charles-François Raymond Descloux, Kristin Stefanie Grussmayer, Jochem Deen

Single-molecule DNA mapping has the potential to serve as a powerful complement to high-throughput sequencing in metagenomic analysis. Offering longer read lengths and forgoing the need for complex library preparation and amplification, mapping stands to p ...

2019

Similarities and differences in the regulation of HoxD genes during chick and mouse limb development

Denis Duboule, Guillaume Andrey, Lucille Delisle, Christopher Chase Bolt, Leonardo Beccari, Nayuta Yakushiji

In all tetrapods examined thus far, the development and patterning of limbs require the activation of gene members of the HoxD cluster. In mammals, they are regulated by a complex bimodal process that controls first the proximal patterning and then the dis ...

PUBLIC LIBRARY SCIENCE2018

Analysis of cellular and drug action mechanisms in the malaria parasites using systems biology approaches

Anush Chiappino-Pepe

Malaria puts at risk of infection half of the world population and still kills around half a million people every year. The rapid and worrisome rise of drug-resistant malaria parasites hinders the treatment of malaria and calls for a global collaboration t ...

EPFL2018

RNA sequencing dataset describing transcriptional changes in cervical dorsal root ganglia after bilateral pyramidotomy and forelimb intramuscular gene therapy with an adeno-associated viral vector encoding human neurotrophin-3

Claudia Kathe

Unilateral or bilateral corticospinal tract injury in the medullary pyramids in adult rats causes anatomical and physiological changes in proprioceptive neurons projecting to the cervical spinal cord accompanied by hyperreflexia and abnormal behavioural mo ...

ELSEVIER SCIENCE BV2018

The gene family-free median of three

Metin Balaban

Background: The gene family-free framework for comparative genomics aims at providing methods for gene order analysis that do not require prior gene family assignment, but work directly on a sequence similarity graph. We study two problems related to the b ...

2017

New Genome Similarity Measures based on Conserved Gene Adjacencies

Bernard Moret, Shachi Shailesh Deshpande

Many important questions in molecular biology, evolution, and biomedicine can be addressed by comparative genomic approaches. One of the basic tasks when comparing genomes is the definition of measures of similarity (or dissimilarity) between two genomes, ...

Mary Ann Liebert2017

Guidelines for Genome-Scale Analysis of Biological Rhythms

Felix Naef, Frédéric Bruno Martin Gachon, Alaaddin Bulak Arpat, Han Wang, Zheng Chen, Xiaodong Li

Genome biology approaches have made enormous contributions to our understanding of biological rhythms, particularly in identifying outputs of the clock, including RNAs, proteins, and metabolites, whose abundance oscillates throughout the day. These methods ...

Sage Publications Inc2017

The Gene Family-Free Median of Three

Metin Balaban

The gene family-free framework for comparative genomics aims at developing methods for gene order analysis that do not require prior gene family assignment, but work directly on a sequence similarity graph. We present a model for constructing a median of t ...

Springer AG2016

The Impact of Linked Selection in Chimpanzees: A Comparative Study

Jeffrey David Jensen, Susanne Petra Pfeifer

Levels of nucleotide diversity vary greatly across the genomes of most species owing to multiple factors. These include variation in the underlying mutation rates, as well as the effects of both direct and linked selection. Fundamental to interpreting the ...

Oxford University Press (OUP)2016

On the (un) predictability of a large intragenic fitness landscape

Jeffrey David Jensen, Claudia Bank, Sebastian Matuszewski

The study of fitness landscapes, which aims at mapping genotypes to fitness, is receiving ever-increasing attention. Novel experimental approaches combined with next-generation sequencing (NGS) methods enable accurate and extensive studies of the fitness e ...

National Academy of Sciences2016