Exome Sequencing News and Research

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Oxford Gene Technology develops optimised rare disease sequencing and analysis service

Oxford Gene Technology (OGT), a provider of innovative clinical genetics and diagnostic solutions to advance molecular medicine, has extended its Genefficiency™ Sequencing Service to provide a dedicated service for investigating rare diseases. The specifically optimised version of the service will help investigators and clinicians identify causative mutations quickly, easily and without the need for in-house technical or bioinformatics expertise.

From Oxford Gene Technology 16 Feb 2012

BGI and VIB's genomics meeting to take place on Feb. 15

Both organizations are already collaborating on several projects, including the mapping of the genomes of more than 1,000 species of gut bacteria, compiled from 577 billion base pairs of sequence data. The leading scientific journal Science selected this work as one of the scientific breakthroughs of 2011. Large-scale genome sequencing is becoming ever more important in life sciences, healthcare and agricultural research.

9 Feb 2012

Whole exome sequencing provides clues about rare mutations in aneurysms

An innovative approach to genome screening has provided clues about rare mutations that may make people susceptible to brain aneurysms, predisposing them to brain bleeds, according to preliminary late-breaking research presented at the American Stroke Association's International Stroke Conference 2012.

4 Feb 2012

Whole-exome sequencing discovers cause of glycosylation disorders

Sequencing a patient's entire genome to discover the source of his or her disease is not routine - yet. But geneticists are getting close. A case report, published this week in the American Journal of Human Genetics, shows how researchers can combine a simple blood test with an "executive summary" scan of the genome to diagnose a type of severe metabolic disease.

4 Feb 2012

Cancer Genomics now available online

Genome Research publishes online and in print today a special issue entitled, "Cancer Genomics," highlighting insights gained form cutting-edge genomic and epigenomic analyses of cancer.

2 Feb 2012

Researchers discover new mechanism that regulates blood pressure

Analyzing all the genes of dozens of people suffering from a rare form of hypertension, Yale University researchers have discovered a new mechanism that regulates the blood pressure of all humans.

23 Jan 2012

TRON uses Ingenuity Variant Analysis to identify cancer driver variants

Ingenuity Systems, a leading provider of information and analysis solutions for life science researchers, today announced that TRON has used Ingenuity Variant Analysis to identify cancer driver variants that inform the development of an experimental individualized RNA-based therapeutic.

9 Jan 2012

Next generation personal genomic testing now widely available

The era of widely available next generation personal genomic testing has arrived and with it the ability to quickly and relatively affordably learn the sequence of your entire genome. This would include what is referred to as the "exome," your complete set of protein-coding sequences.

7 Dec 2011

Scientists discover new candidate gene for Dravet syndrome

Dravet syndrome is a severe genetic epilepsy that appears early in life. About 75 percent of cases can be attributed to mutations in the SCN1A gene encoding the sodium channel NaV1.1. The remaining patients with this syndrome are without a definitive molecular genetic diagnosis. Research presented today at the American Epilepsy Society's 65th Annual Meeting has found a non-SCN1A candidate gene and suggests that Dravet syndrome may be caused by any one of a number of yet unidentified genes.

5 Dec 2011

Ambry to use Agilent SureSelect Target Enrichment System for exome sequencing

Agilent Technologies Inc. and Ambry Genetics today announced an agreement under which Ambry Genetics will use the Agilent SureSelect Target Enrichment System for exome sequencing services.

28 Oct 2011

GeneDx launches new genetic test to accurately diagnose rare diseases

At the joint conference of the American Society of Human Genetics/International Congress on Human Genetics in Montreal on October 12, GeneDx, one of the foremost genetics laboratories in the world and a subsidiary of Bio-Reference Laboratories, Inc., is announcing a first-of-its-kind test that will enable physicians and patients to more accurately identify the genetic cause of rare diseases.

13 Oct 2011

Life Technologies launches Ion AmpliSeq Cancer Panel

Life Technologies Corporation today announced the launch of the Ion AmpliSeq Cancer Panel, enabling scientists to sequence dozens of genes in cancer research samples using a simple workflow.

12 Oct 2011

Researchers discover new inherited disorder that causes mental retardation, liver dysfunction

Researchers at the Swedish medical university Karolinska Institutet have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused by mutations in the ADK gene, which codes for the enzyme adenosine kinase.

1 Oct 2011

Ambry to provide CLIA-approved exome services for applications in clinical diagnostics

Ambry Genetics today announces that it is the first laboratory to provide CLIA-approved exome services for applications in clinical diagnostics. After comprehensive review by Ambry's staff of geneticists and medical directors, these results will allow clinicians to diagnose affected patients with conditions that have eluded traditional diagnostic approaches.

30 Sep 2011

Axeq announces Turnkey Discovery sequencing and analysis services

Axeq Technologies announced the industry-first Axeq Turnkey Discovery analytical bioinformatic services coupled with high-coverage exome sequencing applications.

15 Sep 2011

Fast-track genetic diagnosis for hearing loss

Over 28 million Americans are hearing impaired, and 50 percent of these cases can be traced to genetic causes. The condition can be especially challenging for children born hearing impaired because spoken language, reading, and cognitive development are tied to hearing. That makes early diagnosis essential for identifying appropriate therapy and treatment.

15 Sep 2011

Research identifies 6 critical deafness-related mutations in Israeli Jewish, Palestinian Arab families

Precise diagnosis of disease and developmental syndromes often depends on understanding the genetics underlying them. Most cases of early onset hearing loss are genetic in origin but there are many different forms. Heretofore, it has been difficult to identify the gene responsible for the hearing loss of each affected child, because the critical mutations differ among countries and populations.

14 Sep 2011

Studies reveal new set of mutations linked with head and neck cancer

Powerful new technologies that zoom in on the connections between human genes and diseases have illuminated the landscape of cancer, singling out changes in tumor DNA that drive the development of certain types of malignancies such as melanoma or ovarian cancer.

29 Jul 2011

Researchers discover novel combination of two mutations in a patient with ADHD

Often enough, in science as in life, unexpected knowledge has a personal impact. Researchers seeking rare gene variants in just a few individuals with attention-deficit hyperactivity disorder (ADHD) discovered that one patient had a novel combination of two mutations.

21 Jul 2011

Scientists identify new inherited form of Parkinson's disease

Scientists at the Helmholtz Zentrum München and the Technische Universität München working in cooperation with the Medical University of Vienna have identified a mutation associated with a inherited form of late-onset Parkinson's disease.

19 Jul 2011