Pharmacogenomics Reporter | MDx

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In last week's issue of Pharmacogenomics Reporter

Video Spotlight

Shashikant Kulkarni at ACMG

BioArray News editor Justin Petrone sat down with Shashikant Kulkarni, an associate professor at Washington University School of Medicine at St. Louis, to discuss chromosomal microarrary analysis in the clinic, SNP arrays versus CGH platforms for post-natal testing, and more.

May 16, 2012

Miragen Therapeutics' Eva van Rooij

Miragen Therapeutics' Eva van Rooij discusses microRNA-based therapeutics, the challenges associated with chronic microRNA knockdown, therapeutic microRNA antagonists, and more.

May 08, 2012

A Conversation with CeGaT's Saskia Biskup

In this video, Julia Karow, Editor of Clinical Sequencing News, interviews Saskia Biskup, CEO of the Center for Genomics and Transcriptomics, or CeGaT, at the company's headquarters in Tübingen, Germany.

May 02, 2012

A Tour of Illumina's CLIA Lab

In this video, Illumina's CLIA laboratory manager Suneer Jain gives InSequence and Clinical Sequencing News Editor Monica Heger a tour of Illumina's CLIA lab at the company's San Diego headquarters.

April 25, 2012
Young Investigator Profile

James Noonan

Assistant Professor
Yale University

Development Deciphered

The Noonan lab is studying changes in developmental gene regulation during human evolution on multiple levels. They are refining statistical methods to quantify the rate of human-specific sequence change in noncoding DNA, in order to identify regulatory elements that changed rapidly in human evolution. In addition, the lab is also characterizing individual cis-regulatory elements with human-specific developmental functions by reverse genetic analysis in mouse models.
Blog

A Decline for Vermillion

Vermillion reports a decline in first-quarter revenues; CEO is to leave.

May 17, 2012

An Imperfect Processor

A Rice University team has developed an imperfect processor that might be perfect for application areas where energy consumption and speed are concerns.

May 17, 2012

This Week in Experimental and Molecular Pathology

In Experimental and Molecular Pathology this week: age-dependent and tissue-specific genome structure, and more.

May 17, 2012

Exome Sequencing Is Not Perfect …

… And here are 10 reasons why.

May 17, 2012
Papers of Note

KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."

Approach to Reduce Allelic Bias in RNA-seq Read-Mapping
Satya, Zavaljevski, and Reifman, Nucleic Acids Research
Researchers at the US Department of Defense Biotechnology High Performance Computing Software Applications Institute present an approach to reduce allelic bias in RNA-seq read-mapping based on the "construction of an enhanced reference genome that includes the alternative alleles at known polymorphic loci." In this paper, the team shows that "mapping to this enhanced reference reduced the read-mapping biases, leading to more reliable estimates of ASE [allele-specific expression]."
People on the Move

Genomic Health has appointed Richard Tompane as president of its new subsidiary InVitae, which will focus on developing next-generation-based sequencing diagnostics for genetic diseases. Tompane was previously president and CEO of Gemfire and has also served as an independent consultant.

LaserGen has appointed Mimi Healy its new CEO and member of the board of directors. She previously served as CEO of Houston-based Bacterial Barcodes, a spin-off company of BCM Technologies.

Trovagene has named Carlo Croce to serve on its scientific advisory board. Croce is director of the Human Cancer Genetics Program and the Genetics Institute at The Ohio State University, and he is John W. Wolfe Chair in Human Cancer Genetics.
Upcoming Events

Conferences, Meetings & Deadlines

The iMedicine & Mobile Life Sciences World Summit
May 16-17 / Boston
Arrowhead Publishers

New Perspectives on Immunity to Infection
May 19-22 / Heidelberg, Germany
EMBL

TIDES: Oligonucleotides and Peptide Technology & Product Development
Applications of Nucleic Acids Technologies in Molecular Diagnostics, Oligonucleotide Therapeutics Discovery, and Peptide Discovery and Development
May 20-23 / Las Vegas
IBC Life Sciences

Microtubules: Structure, Regulation and Functions
May 23-26 / Heidelberg, Germany
EMBL

Evidence for Clinical Utility of Molecular Diagnostics in Oncology: A Workshop
May 24 / Washington, DC
Institute of Medicine

Abstract & Registration Deadlines

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Science
Researchers from Duke University and the University of Michigan successfully diagnosed around half of the individuals that they tested during a pilot study on the use of clinical exome sequencing. The investigators did whole-exome sequencing on individuals from a dozen parent-child trios for the study and pinned down likely causal mutations in six of the individuals, including new mutations in genes linked to Mendelian diseases.
Business
Fluidigm and the Broad Institute launched a new center, housed at the Broad's Cambridge, Mass.-based headquarters, aimed at developing new methods and discoveries in mammalian single-cell genomics. The center intends to develop novel single-cell, microfluidic methods for gene expression profiling, RNA/DNA sequencing, and epigenetic analysis with an aim at making single-cell research accessible to the greater research community.
Funding
Launching what will be the maiden initiative for the months-old National Center for Advancing Translational Sciences, NIH Director Francis Collins unveiled a program that will support researchers using biomarker-based studies and other approaches to repurpose compounds owned by three of the world's largest drug developers. NCATS will provide up to $20 million in 2013 through two types of cooperative agreements to fuel the new projects.
Genome Technology Magazine
For this month's Q&A, Matthew Dublin speaks with McGill University's John Breitner about a European consortium that aims to develop molecular diagnostics for both Alzheimer's and Parkinson's disease. As part of the program, Breitner is developing standardized ways to describe patient samples as a first step in bringing innovations to the clinic. Breitner says that there are a number of biomarkers than can confirm or deny a presumptive diagnosis, but there is not yet a standard way to run tests based on such markers.

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In last week's issue of Pharmacogenomics Reporter

Video Spotlight

Young Investigator Profile

Blog

Papers of Note

People on the Move

Upcoming Events

Science

Business

Funding

Genome Technology Magazine

TechGuides Listings

Poll