Concept

Exome sequencing

Publications associées (253)

MIMAS 3.0 is a Multiomics Information Management and Annotation System

Jacques Rougemont, Alexandre Gattiker, Ioannis Xenarios

Background: DNA sequence integrity, mRNA concentrations and protein-DNA interactions have been subject to genome-wide analyses based on microarrays with ever increasing efficiency and reliability over the past fifteen years. However, very recently novel te ...

BioMed Central2009

Comparative genomic and phylogeographic analysis of Mycobacterium leprae

Stewart Cole, Jacques Rougemont, Philippe Busso, Pushpendra Singh, Alexandre Gattiker

Reductive evolution and massive pseudogene formation have shaped the 3.31-Mb genome of Mycobacterium leprae, an unculturable obligate pathogen that causes leprosy in humans. The complete genome sequence of M. leprae strain Br4923 from Brazil was obtained b ...

2009

Lack of Insertional-Deletional Polymorphism in a Collection of Mycobacterium ulcerans Isolates from Ghanaian Buruli Ulcer Patients

Stewart Cole, Julia Hauser

Mycobacterium ulcerans causes the devastating infectious skin disease Buruli ulcer and has a monomorphic population structure. The resolution of conventional genetic fingerprinting methods is therefore not sufficient for microepidemiological studies aiming ...

American Society for Microbiology2009

Host genetics influences on HIV type-1 disease

Jacques Fellay

HIV host genetic studies seek to describe as comprehensively as possible the effect of human genetic variation on the individual response to HIV type-1 (HIV-1) infection. Many associations between specific gene variants and HIV-1 disease outcomes have been ...

International Medical Press2009

Comprehensive proteome analysis of Mycobacterium ulcerans and quantitative comparison of mycolactone biosynthesis

Stewart Cole, Petra Tafelmeyer

Mycobacterium ulcerans is the causative agent of Buruli ulcer, a rapidly emerging human disease in which mycolactone, a cytotoxic and immunosuppressive macrocyclic polyketide, is responsible for massive skin destruction. The genome sequencing of M. ulceran ...

2008

A new class of cleavable fluorescent nucleotides: synthesis and optimization as reversible terminators for DNA sequencing by synthesis

Gerardo Turcatti

Fluorescent 2'-deoxynucleotides containing a protecting group at the 3'-O-position are reversible terminators enabling array-based DNA sequencing by synthesis (SBS) approaches. Herein, we describe the synthesis of a new family of 3'-OH unprotected cleavabl ...

Oxford University Press2008

Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study

Johan Auwerx

Establishing standard operating procedures (SOPs) as tools for the analysis of behavioral phenotypes is fundamental to mouse functional genomics. It is essential that the tests designed provide reliable measures of the process under investigation but most ...

2008

Analysis of expression of PDCP and MAL13P1.308 of Plasmodium falciparum employing a quantitative proteomics approach based on SILAC

Céline Freymond

Plasmodium falciparum is a deadly parasite that causes malaria in humans. This disease causes the death of one million people every year. To find new means to fight this parasite, it is important to learn more about its biology. As the pathways of protein ...

2008

Accurate whole human genome sequencing using reversible terminator chemistry

Gerardo Turcatti, Ho Ling Li, Lu Zhang, Anil Kumar, Jingwen Wang

DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400-800 base pair) reads, but the existence of reference sequences for the human and man ...

2008

WGAViewer: software for genomic annotation of whole genome association studies

Olivier Martin, Jacques Fellay, Amalio Telenti

To meet the immediate need for a framework of post-whole genome association (WGA) annotation, we have developed WGAViewer, a suite of JAVA software tools that provides a user-friendly interface to automatically annotate, visualize, and interpret the set of ...

Cold Spring Harbor Laboratory Press2008

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