Next generation sequencing NGS News and Research

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Researchers discover new cause of congenital myopathy

University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.

26 Jul 2012

Researchers link specific gene mutations with four recognized subtypes of medulloblastoma

Researchers at Dana-Farber/Children's Hospital Cancer Center (DF/CHCC) and several collaborating institutions have linked mutations in specific genes to each of the four recognized subtypes of medulloblastoma, the most common malignant brain tumor of children. The discovery, reported July in the journal Nature, provides doctors with potential biomarkers for guiding and individualizing treatment and reveals prospective therapeutic opportunities for countering this devastating malignancy.

23 Jul 2012

Courtagen launches nucSEEKPDx assay

Courtagen Life Sciences, Inc., a privately held life sciences company that provides innovative proteomic and genomic products and services to the life sciences industry, today announced the expansion of their genetic test menu. The new genetic test, nucSEEKPDx, will sequence approximately 1,100 nuclear genes constituting the mitochondrial exome, which encodes the vast majority of proteins found in the mitochondrion. This test is by far the most comprehensive test on the market for the management of mitochondrial disorders.

11 Jul 2012

New platform for analysis of next generation sequencing data developed by Compugen

Compugen Ltd. (NASDAQ: CGEN) announced today the development of "NexGen," a new platform designed to significantly enhance Compugen’s overall infrastructure for predictive drug and drug target discovery. NexGen is designed to analyze Next Generation Sequencing data which is now beginning to be generated worldwide through RNA-Seq methodology.

2 Jul 2012

Inexpensive exome sequencing can quickly detect heterogeneous diseases

The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics.

25 Jun 2012

BD Biosciences launches new cell sorting system

BD Biosciences, a segment of BD, today announced the launch of the BD FACSJazz™ Cell Sorting System, a next-generation flow cytometer that simplifies cellular isolation and analysis for researchers requiring high sample integrity. Occupying 20" x 20" (51 cm x 51 cm) of benchtop space, the new sorter features high sensitivity to identify and isolate target cells for up to eight parameters.

From BD (Becton, Dickinson and Company) 25 Jun 2012

Comprehensive data analysis and interpretation offered to customers as a result of collaboration between ATLAS Biolabs and Ingenuity systems

ATLAS Biolabs and Ingenuity® Systems have signed a collaboration agreement that gives ATLAS Biolabs’ customers the option to analyse and interpret their study data using Ingenuity solutions.

19 Jun 2012

Next-generation sequencing technologies for the 1,000 Rare Diseases Project

BGI, the world's largest genomics organization, and The Children's Hospital of Philadelphia (CHOP) today announced that they have jointly initiated the 1,000 Rare Diseases Project with the aim of accelerating the discovery of genetic variants underlying rare diseases.

19 Jun 2012

First inventory of microbial diversity in the world's oceans

The landmark publication this week of a "map" of the bacterial make-up of healthy humans has deep roots in an unexpected place: the ocean.

14 Jun 2012

Syapse introduces Discovery app to organize R&D data and processes

Syapse announced today the commercial launch of Discovery, its cloud-based application for making omics data actionable in clinical research and development. Discovery combines a powerful platform for aggregating and structuring biomedical data with intuitive data mining, workflow, and reporting features, enabling biopharma and diagnostics companies to leverage the increasing amount of data generated by advanced omics technologies such as next-generation sequencing.

12 Jun 2012

dSarm/Sarm1 gene promotes axon destruction after injury

Degeneration of the axon and synapse, the slender projection through which neurons transmit electrical impulses to neighboring cells, is a hallmark of some of the most crippling neurodegenerative and brain diseases such as amyotrophic lateral sclerosis (ALS), Huntington's disease and peripheral neuropathy.

8 Jun 2012

New evidence of important role of next-generation sequencing in cancer treatment

Foundation Medicine, Inc., a molecular information company that brings comprehensive cancer genomic analysis to routine clinical care, today announced results from two studies using next-generation sequencing (NGS) to provide actionable information about genomic tumor alterations in individual patients' cancers across all solid tumor types.

2 Jun 2012

Scientists discover genetic basis for CLOVES syndrome

Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder.

1 Jun 2012

Illumina launches Nextera XT DNA Sample Preparation Kits

Illumina today introduced the Nextera XT DNA Sample Preparation Kit, the easiest way for researchers to prepare and sequence small genomes, PCR amplicons, and plasmids.

From Illumina, Inc. 1 Jun 2012

Life Technologies, OpGen enter collaboration on Whole Genome Mapping and Ion Torrent sequencing

Life Technologies Corporation and OpGen, Inc., a commercial stage whole genome analysis company, today announced that they have signed a collaboration agreement to develop systems, technologies and applications intended to improve the management and surveillance of microbial outbreaks in the public health and infectious disease markets.

31 May 2012

Foundation Medicine introduces first pan-cancer genomic profile

Foundation Medicine announced today the commercial launch of FoundationOne, the first pan-cancer, fully informative genomic profile designed to help oncologists expand their patients' treatment options.

31 May 2012

Omixon Target, a next generation sequencing analysis software for targeted sequencing, released by Omixon

Today Omixon – a genomic software company - announced the commercial release of Omixon Target, a next generation sequencing analysis software for targeted sequencing. Omixon built its new software Target with the vision of helping diagnostic labs to adopt next generation sequencing to replace and complement traditional capillary Sanger sequencing.

30 May 2012

QCMG establishes Illumina technology as core sequencing platform

Illumina today announced that the Queensland Centre for Medical Genomics (QCMG), home of Australia's International Cancer Genomics Consortium program, has established Illumina technology as its core sequencing platform in an expanded facility.

30 May 2012

Fluxion Biosciences announces launch of Discovery Services business

Fluxion Biosciences, a privately held drug discovery tools and services company, announced today that it is launching a Discovery Services business to support growing demand for assay support on Fluxion's unique cell analysis platforms.

From Fluxion Biosciences 29 May 2012

Single test developed that detects all known strains of H5N1

The close collaboration between scientists from the Experimental Therapeutics Centre (ETC) under the Agency for Science and Technology Research (A*STAR) and clinicians from Tan Tock Seng Hospital (TTSH) has enabled the successful development of the most comprehensive and rapid H5N1 bird flu test kit available to date.

29 May 2012