Concept

Structural variation

Related publications (12)

Secondary structure of the human mitochondrial genome affects formation of deletions

BackgroundAging in postmitotic tissues is associated with clonal expansion of somatic mitochondrial deletions, the origin of which is not well understood. Such deletions are often flanked by direct nucleotide repeats, but this alone does not fully explain ...

BMC2023

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

rstoolbox - a Python library for large-scale analysis of computational protein design data and structural bioinformatics

Bruno Emanuel Ferreira De Sousa Correia, Zander Harteveld, Andreas Scheck, Jaume Bonet Martinez, Fabian Sesterhenn

BackgroundLarge-scale datasets of protein structures and sequences are becoming ubiquitous in many domains of biological research. Experimental approaches and computational modelling methods are generating biological data at an unprecedented rate. The deta ...

2019

Mitochondrial unfolded protein response, its molecular mechanism and physiological impact

Virginija Jovaisaite

Mitochondria are the main producers of ATP, the energy currency of the cell, and they perform a wide array of other fundamental functions. These organelles are essential not only for cellular metabolism, but also for organismal physiology and lifespan. A r ...

EPFL2016

Session variability modelling for face authentication

Sébastien Marcel, Laurent El Shafey

This study examines session variability modelling for face authentication using Gaussian mixture models. Session variability modelling aims to explicitly model and suppress detrimental within-class (inter-session) variation. The authors examine two techniq ...

2013

Session Variability Modelling for Face Authentication

Sébastien Marcel, Laurent El Shafey

This paper examines session variability modelling for face authentication using Gaussian mixture models. Session variability modelling aims to explicitly model and suppress detrimental within-class (inter-session) variation. We examine two techniques to do ...

Idiap2013

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

Tatiana Favez, Alexandra Iouranova, Pascal Escher

The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted ex ...

Hindawi Publishing Corporation2013

Bimodal control of Hoxd gene transcription in the spinal cord defines two regulatory subclusters

Denis Duboule

The importance of Hox genes in the specification of neuronal fates in the spinal cord has long been recognized. However, the transcriptional controls underlying their collinear expression domains remain largely unknown. Here we show in mice that the corres ...

2012

Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity

Sebastian Martin Waszak

Copy-number variations (CNVs) are widespread in the human genome, but comprehensive assignments of integer locus copy-numbers (i.e., copy-number genotypes) that, for example, enable discrimination of homozygous from heterozygous CNVs, have remained challen ...

Public Library of Science2010

Inversion-based genomic signatures

Bernard Moret, Krister Swenson

Background: Reconstructing complete ancestral genomes (at least in terms of their gene inventory and arrangement) is attracting much interest due to the rapidly increasing availability of whole genome sequences. While modest successes have been reported fo ...

2009

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