Concept

Exome sequencing

Related publications (253)

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and participa ...

Bmj Publishing Group2014

Mycobacterium leprae genomes from a British medieval leprosy hospital: towards understanding an ancient epidemic

Stewart Cole, Pushpendra Singh

Background: Leprosy has afflicted humankind throughout history leaving evidence in both early texts and the archaeological record. In Britain, leprosy was widespread throughout the Middle Ages until its gradual and unexplained decline between the 14th and ...

Biomed Central Ltd2014

Patient Privacy in the Genomic Era

Jean-Pierre Hubaux, Erman Ayday, Jean Louis Raisaro

According to many scientists and clinicians, genomics is taking on a key role in the field of medicine. Impressive advances in genome sequencing have opened the way to a variety of revolutionary applications in modern healthcare. In particular, the increas ...

2014

Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters

Felix Naef, Cédric Gobet, Kyle Gustafson, Mathieu Quinodoz

Background: In mammals, ChIP-seq studies of RNA polymerase II (PolII) occupancy have been performed to reveal how recruitment, initiation and pausing of PolII may control transcription rates, but the focus is rarely on obtaining finely resolved profiles th ...

BioMed Central2014

Nanopore Integrated Nanogaps for DNA Detection

László Forró, Arnaud Magrez, Aleksandra Radenovic, Axel Fanget, Floriano Traversi, Sergey Khlybov

A high-throughput fabrication of sub-10 nm nanogap electrodes combined with solid-state nanopores is described. These devices should allow concomitant tunneling and ionic current detection of translocating DNA molecules. We report the optimal fabrication p ...

American Chemical Society2014

GuavaH: a compendium of host genomic data in HIV biology and disease

Jacques Fellay, Amalio Telenti, Istvan Bartha

Background: There is an ever-increasing volume of data on host genes that are modulated during HIV infection, influence disease susceptibility or carry genetic variants that impact HIV infection. We created GuavaH (Genomic Utility for Association and Viral ...

BioMed Central2014

Thinking too positive? Revisiting current methods of population genetic selection inference

Jeffrey David Jensen, Matthieu Foll, Claudia Bank, Gregory Bruce Ewing

In the age of next-generation sequencing, the availability of increasing amounts and improved quality of data at decreasing cost ought to allow for a better understanding of how natural selection is shaping the genome than ever before. However, alternative ...

Elsevier Science London2014

A Systems Approach to Identify Genetic and Environmental Regulators of Metabolism

Evan Graehl Williams

For more than a century, it has been recognized that our genetic inheritance and our environment interact to shape who we are and how we act (nature vs. nurture), and the study of genetics has allowed us to explain why traits can vary dramatically betwee ...

EPFL2014

Microfluidic devices for diagnostic applications

Christoph Merten

Microfluidic systems have become an attractive platform for diagnostic applications. The technology not only allows drastically decreased assay volumes (down to picoliters), but also accelerates sample processing and readout. In this article we give an ove ...

2014

HTSstation: A Web Application and Open-Access Libraries for High-Throughput Sequencing Data Analysis

Jacques Rougemont, Marion Leleu, Daniël Noordermeer, Julien Delafontaine, Lucas Sinclair

The HTSstation analysis portal is a suite of simple web forms coupled to modular analysis pipelines for various applications of High-Throughput Sequencing including ChIP-seq, RNA-seq, 4C-seq and re-sequencing. HTSstation offers biologists the possibility t ...

Public Library of Science2014

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