Genomic News and Research

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CAP publishes revised version of molecular pathology checklist with dedicated section on NGS

The College of American Pathologists (CAP) published a revised version of its molecular pathology checklist with a dedicated section on next generation sequencing (NGS) as part of the new edition of the CAP Laboratory Accreditation Program checklists released July 31, 2012.

2 Aug 2012

Researchers unlock genetic secrets of peripheral T-cell lymphomas

Researchers at Mayo Clinic have completed the world's first genome-wide sequencing analysis of peripheral T-cell lymphomas, unlocking the genetic secrets of this poorly understood and highly aggressive cancer of the immune system.

2 Aug 2012

Patients with multiple colorectal adenomas may carry germline mutations in APC or MUTYH genes

Among patients with multiple colorectal polyps, the prevalence of certain gene mutations varied considerably by polyp count, according to a study in the August 1 issue of JAMA.

1 Aug 2012

NYGC purchases four Life Technologies' Ion Proton Sequencers

Life Technologies Corporation today announced that the New York Genome Center (NYGC) has purchased four Ion Proton Sequencers for its new Innovation Center.

31 Jul 2012

Population Genetics validates GenomePooling™ for cancer

Population Genetics Technologies Ltd., creator of innovative methods for genetic analyses and biomarker discovery, has successfully completed a pilot study to prove that its GenomePooling™ method is sensitive and accurate enough to detect even small percentages of gene variants within cancer tissue. This validates the method’s suitability for use in IntReALL 2010, the world’s largest genetic analysis of acute lymphoblastic leukaemia (ALL) relapse cases. ALL is the most common childhood malignant disease.

31 Jul 2012

GenomePooling™ method is sensitive and accurate

31 Jul 2012

EPHA3 mutations may be important drivers of lung cancers

Vanderbilt-Ingram Cancer Center researchers have identified how one of the genes most commonly mutated in lung cancer may promote such tumors.

31 Jul 2012

Gene for sporadic paralysis of childhood discovered

Researchers have identified de novo mutations in the ATP1A3 gene that they believe are responsible for a sporadic childhood paralysis known as alternating hemiplegia of childhood.

30 Jul 2012

Study sheds light on complexities of cancer genetics

30 Jul 2012

GenomeQuest's genomic decision support system achieves HIPAA compliance

GenomeQuest Inc., a global provider of large-scale genomic software applications, today announced that its GQ-Dx genomic decision support system for the production of clinical-grade diagnostic reports from next-generation sequencing (NGS) runs now meets Health Insurance Portability and Accountability Act (HIPAA) security and privacy standards.

30 Jul 2012

Elsevier introduces Applied and Translational Genomics journal

Elsevier, a world-leading provider of scientific, technical and medical information products and services, announces the launch of Applied and Translational Genomics, an open access journal.

30 Jul 2012

Fruit flies help pinpoint genetic changes that spell cancer

By studying fruit flies, scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) have successfully devised a fast and cost-saving way to uncover genetic changes that have a higher potential to cause cancer. With this new approach, researchers will now be able to rapidly distinguish the range of genetic changes that are causally linked to cancer (i.e. "driver" mutations) versus those with limited impact on cancer progression.

30 Jul 2012

PedBrain Tumor network publishes evaluation of first 125 genome analyses of medulloblastomas

Brain tumors are the primary cause of cancer mortality in children. Even if a cure is possible, young patients often suffer from the stressful treatment which can be harmful to the developing brain. The most common childhood brain tumors are medulloblastoma and pylocytic astrocytoma.

27 Jul 2012

Fusion of FGFR and TACC gene leads to glioblastoma

Researchers at Columbia University Medical Center (CUMC) have discovered that some cases of glioblastoma, the most common and aggressive form of primary brain cancer, are caused by the fusion of two adjacent genes.

26 Jul 2012

Novel genomic sequencing method can help conduct in-depth analysis of single cells

Only by viewing a Georges Seurat painting at close range can you appreciate the hidden complexities of pointillism - small, distinct dots of color applied to form an image from a distance. Similarly, biologists and geneticists have long sought to analyze profiles of genes at the single cell level but technology limitations have only allowed a view from afar.

23 Jul 2012

Genetic underpinnings of Wiedemann-Steiner syndrome identified

Researchers have identified a genetic underpinning of Wiedemann-Steiner syndrome.

23 Jul 2012

Researchers identify several gene mutations responsible for medulloblastoma

Researchers at the Stanford University School of Medicine and Lucile Packard Children's Hospital have identified several gene mutations responsible for the most common childhood brain tumor, called medulloblastoma, adding evidence to the theory that the diagnosis is a group of genetically distinct cancers with different prognoses. These and accompanying findings are likely to lead to less-toxic, better-targeted treatment approaches over the next two years, the researchers said.

23 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

Scientists develop simple assay to diagnose 'superparasites'

Belgian scientists of the Institute of Tropical Medicine (ITM) in Antwerp, Belgium made a breakthrough in bridging high tech molecular biology research on microbial pathogens and the needs of the poorest of the poor. After sequencing the complete genome of Leishmania donovani (a parasite causing one of the most important tropical diseases after malaria) in hundreds of clinical isolates, they identified a series of mutations specific of 'superparasites' and developed a simple assay that should allow tracking them anywhere.

20 Jul 2012

Researchers identify six genes with driving mutations in melanoma

It's been a burning question in melanoma research: Tumor cells are full of ultraviolet (UV)-induced genetic damage caused by sunlight exposure, but which mutations drive this cancer? None have been conclusively tied to melanoma. The sheer abundance of these passenger mutations has obscured the search for genetic driver mutations that actually matter in melanoma development and progression.

20 Jul 2012