Concept

Exome sequencing

Related publications (253)

A Generalized Mathematical Model To Estimate T- and B-Cell Receptor Diversities Using AmpliCot

The efficiency of the adaptive immune system is dependent on the diversity of T- and B-cell receptors, which is created by random rearrangement of receptor gene segments. AmpliCot is an experimental technique that allows the measurement of the diversity of ...

Elsevier2012

Genomics and transcriptomics of the Mycobacterium tuberculosis complex

Swapna Uplekar

The goal of eliminating tuberculosis (TB) by 2050 depends on the development of improved TB diagnostics, drugs and vaccines. Advances in these areas require a deep understanding of the disease and its causative agent, Mycobacterium tuberculosis (M. tb). My ...

EPFL2012

Towards a new tuberculosis drug: pyridomycin - nature's isoniazid

Stewart Cole, Florence Pojer, Claudia Sala, Ruben Hartkoorn, Joao Pedro De Almeida Neres, Swapna Uplekar, Raju Mukherjee, Sophie Magnet

Tuberculosis, a global threat to public health, is becoming untreatable due to widespread drug resistance to frontline drugs such as the InhA-inhibitor isoniazid. Historically, by inhibiting highly vulnerable targets, natural products have been an importan ...

Wiley Open Access2012

RNA Profiling and Chromatin Immunoprecipitation-Sequencing Reveal that PTF1a Stabilizes Pancreas Progenitor Identity via the Control of MNX1/HLXB9 and a Network of Other Transcription Factors

Emilie Gesina, Philipp Bucher, Anne Grapin-Botton, Nancy Thompson

Pancreas development is initiated by the specification and expansion of a small group of endodermal cells. Several transcription factors are crucial for progenitor maintenance and expansion, but their interactions and the downstream targets mediating their ...

American Society for Microbiology2012

Privacy-Enhancing Technologies for Medical Tests Using Genomic Data

Jean-Pierre Hubaux, Erman Ayday, Jean Louis Raisaro

In this paper, we propose privacy-enhancing technologies for medical tests and personalized medicine methods, which utilize patients' genomic data. First, we highlight the potential privacy threats on genomic data and the challenges of providing privacy-pr ...

2012

PyroTRF-ID: a novel bioinformatics methodology for the affiliation of terminal-restriction fragments using 16S rRNA gene pyrosequencing data

Christof Holliger, Julien Maillard, Pierre Rossi, Jacques Rougemont, David Gregory Weissbrodt, Noam Shani, Lucas Sinclair

Background: In molecular microbial ecology, massive sequencing is gradually replacing classical fingerprinting techniques such as terminal-restriction fragment length polymorphism (T-RFLP) combined with cloning-sequencing for the characterization of microb ...

BioMed Central2012

Fragmentation of DNA in a sub-microliter microfluidic sonication device

Christoph Merten

Fragmentation of DNA is an essential step for many biological applications including the preparation of next-generation sequencing (NGS) libraries. As sequencing technologies push the limits towards single cell and single molecule resolution, it is of grea ...

2012

Reconstruction of Large-Scale Phylogenies

Vaibhav Rajan

The evolutionary relationships between organisms or phylogenies are fundamental to biology. They are invaluable as guiding tools to mine, organize and exploit the enormous amounts of biological data in the post-genomic era. The advent of high-throughput se ...

EPFL2012

Analysis of HIV-1 Expression Level and Sense of Transcription by High-Throughput Sequencing of the Infected Cell

Jacques Rougemont, Amalio Telenti

Next-generation sequencing offers an unprecedented opportunity to jointly analyze cellular and viral transcriptional activity without prerequisite knowledge of the nature of the transcripts. SupT1 cells were infected with a vesicular stomatitis virus G env ...

2011

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Farah Ouechtati

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. Th ...

2011

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