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New Neurodevelopmental Syndrome Identified
Study pinpoints underlying genetic mutations, raising hopes for targeted therapies.
Uncovering Hidden Genomic Alterations that Drive Cancers
Tested on large tumor genomics database, REVEALER method allows researchers to connect genomics to cell function.
Gene Behind Rare Childhood Syndrome Identified
Online activism by one patient’s mother spurred research collaboration which led to the identification of a new genetic syndrome.
Resilience Project Identifies Rare Unaffected Individuals
Researchers from Mount Sinai and Sage Bionetworks report analysis of nearly 600,000 genomes for resilience project.
Rare DNA Will Have Nowhere To Hide
Two National Institutes of Health grants back Rice University effort to develop new diagnostics.
Virus Causing Tilapia Die-Offs Identified
Discovery of the virus causing Tilapia die-offs in Israel and Ecuador points the way to protecting a fish that feeds multitudes.
Children With Cancer To Get New Gene Test
Pilot study will sequence 81 cancer genes in children’s tumours to help personalise cancer treatment.
How The Bat Got Its Wings
Finding may provide clues to human limb development and malformations.
Lupus Study Shows Precision Medicine’s Potential to Define the Genetics of Autoimmune Disease
Researchers at UT Southwestern have used next-generation DNA sequencing technology to identify more than 1,000 gene variants that affect susceptibility to SLE.
Illuminating the Broad Spectrum of Disease
PRISM efficiently tests drug compounds in multiple cell lines simultaneously, accelerating discovery of targeted therapies in the service of precision medicine.

Automated Sequencing Analysis Tool for Infectious Disease Diagnostics
Robert Yamamoto, Zova Systems, speaking at Point-of-Care Diagnostics World Congress 2013.

A Single-tube Assay for Detecting ALK, ROS1 and RET Fusions in Lung Cancer
Maruja Lira, Pfizer Inc, speaking at Point-of-Care Diagnostics World Congress 2013.

The Impact of Ligation Bias on Plant Small RNA Sequencing
Professor Tamas Dalmay, University of East Anglia, speaking at AgriGenomics World Congress 2013.

Next Generation Sequencing Chips: Market & Technology Trends
Benjamin Roussel, Yole Developpement, speaking at Lab on a Chip World Congress 2013.

The Genetics of Orphan Diseases
Gijs van Haaften, UMC Utrecht, speaking at European Lab Automation 2013.

The Next Generation of NGS; What's Missing and What's Next
Jonathan O'Halloran, QuantuMDx Group Ltd, speaking at Molecular Medicine Congress 2013.

The Promise of Next Generation Sequencing for Infectious Disease Diagnostics
Till Bachmann, University of Edinburgh, speaking at Molecular Medicine Congress 2013.

Extraction of DNA from FFPE Tissue and Application in NGS
Pieter Vlies, University Medical Centre Groningen, speaking at European Lab Automation 2013.

From Complete Catalogs to "Actionable" Shortlists: Integrative Analysis of Next-generation Sequencing Data in Cancer Research
Han Liang, The University of Texas MD Anderson Cancer Center, speaking at Genomics Research 2013.

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