Concept

Exome sequencing

Publications associées (253)

Application of High-Density DNA Resequencing Microarray for Detection and Characterization of Botulinum Neurotoxin-Producing Clostridia

Background: Clostridium botulinum and related clostridia express extremely potent toxins known as botulinum neurotoxins (BoNTs) that cause severe, potentially lethal intoxications in humans. These BoNT-producing bacteria are categorized in seven major toxi ...

Public Library of Science2013

Circadian rhythms in insect disease vectors

Antonio Carlos Alves Meireles Filho

Organisms from bacteria to humans have evolved under predictable daily environmental cycles owing to the Earth's rotation. This strong selection pressure has generated endogenous circadian clocks that regulate many aspects of behaviour, physiology and meta ...

Fundaco Oswaldo Cruz2013

Functional genomics lead to new therapies in follicular lymphoma

Elisa Oricchio

Recent technological advances allow analysis of genomic changes in cancer in unprecedented detail. The next challenge is to prioritize the multitude of genetic aberrations found and identify therapeutic opportunities. We recently completed a study that ill ...

2013

Why to account for finite sites in population genetic studies and how to do this with Jaatha 2.0

With the advent of next-generation sequencing technologies, large data sets of several thousand loci from multiple conspecific individuals are available. Such data sets should make it possible to obtain accurate estimates of population genetic parameters, ...

Wiley-Blackwell2013

Computational analysis of ultraconserved non-coding DNA elements in vertebrate genomes

Slavica Dimitrieva Janeva

Recent advancements in DNA sequencing technologies, accompanied by parallel development of sophisticated computational methods, offer an unprecedented opportunity to explore and study the genetic material of many organisms. However, despite the tremendous ...

EPFL2013

Nuclear Factor I genomic binding associates with chromatin boundaries

Giovanni Dietler, Giovanna Ambrosini, Jan Kerschgens, Philipp Bucher, Nicolas Mermod, Petar Pjanic, Armelle Gaussin

Background: The Nuclear Factor I (NFI) family of DNA binding proteins (also called CCAAT box transcription factors or CTF) is involved in both DNA replication and gene expression regulation. Using chromatin immuno-precipitation and high throughput sequenci ...

BioMed Central2013

Quantifying the Human Likeness of a Humanoid Robot

Joachim von Zitzewitz

In research of human-robot interactions, human likeness (HL) of robots is frequently used as an individual, vague parameter to describe how a robot is perceived by a human. However, such a simplification of HL is often not sufficient given the complexity a ...

Springer Netherlands2013

Genome-wide comparison of medieval and modern Mycobacterium leprae

Stewart Cole, Andrej Benjak, Philippe Busso, Pushpendra Singh

Leprosy was endemic in Europe until the Middle Ages. Using DNA array capture, we have obtained genome sequences of Mycobacterium leprae from skeletons of five medieval leprosy cases from the United Kingdom, Sweden, and Denmark. In one case, the DNA was so ...

Amer Assoc Advancement Science2013

Functional Genotyping of Sulfurospirillum spp. in Mixed Cultures Allowed the Identification of a New Tetrachloroethene Reductive Dehalogenase

Christof Holliger, Julien Maillard, Géraldine Florence Buttet

Reductive dehalogenases are the key enzymes involved in the anaerobic respiration of organohalides such as the widespread groundwater pollutant tetrachloroethene. The increasing number of available bacterial genomes and metagenomes gives access to hundreds ...

Amer Soc Microbiology2013

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the re ...

2012

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