Exome Sequencing News and Research

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Rare variants linked with Parkinson’s disease

Researchers using exome sequencing in families with Parkinson’s disease have identified two genes that could be associated with the condition.

27 Nov 2015

Role of genetic predisposition in pediatric cancer patients

The most detailed analysis yet of the role germline mutations in genes associated with cancer predisposition play in the development of childhood cancer suggests that comprehensive genomic screening may be warranted on all pediatric cancer patients, not just those with a family history of cancer.

19 Nov 2015

Perisylvian polymicrogyria gene found

Researchers have identified the genetic basis for bilateral perisylvian polymicrogyria, the most common form of regional polymicrogyria.

4 Nov 2015

Successful treatment of rare neurodegenerative disease exemplifies potential of precision medicine

A 20-month-old girl suffering from a rare neurodegenerative disease was diagnosed by exome sequencing and successfully treated.

23 Oct 2015

Analysis of high-throughput sequencing data reveals new genes linked to chronic lymphocytic leukemia

Johannes Reiter, former PhD student in the group of Krishnendu Chatterjee at the Institute of Science and Technology Austria (IST Austria), is co-author of a Nature paper on genetic alterations that drive the progression and relapse of cancer.

16 Oct 2015

Epilepsy Society becomes third customer of Complete Genomics' newly introduced Revolocity system

Complete Genomics, Inc., a leader in whole human genome sequencing, announced today that leading UK charity Epilepsy Society has become the third customer of the company's newly introduced Revolocity system, a supersequencer for large-scale, high-quality whole genome and whole exome sequencing.

6 Oct 2015

Mayo Clinic's Gianrico Farrugia highlights five areas that may impact patient care

How is individualized medicine working? Let us count the ways. That's just what Mayo Clinic Vice President Gianrico Farrugia, M.D., did this morning in his opening keynote at the 4th annual Individualizing Medicine Conference. The core of his talk highlighted five areas in which the knowledge and know-how from the human genome will be most impactful in patient care, not just at Mayo Clinic, but anywhere in the nation and globally.

23 Sep 2015

UCPH, Beckman Coulter Genomics identify effects of cancer on protein signaling networks within human cells

Studies published of early results of the strategic collaboration between Beckman Coulter Genomics and Linding Lab at UCPH.

From Beckman Coulter Life Sciences - Automation and Genomics 18 Sep 2015

Desmoplasmic melanoma may possess unprecedented burden of gene mutations, say UCSF scientists

A rare, deadly form of skin cancer known as desmoplasmic melanoma (DM) may possess the highest burden of gene mutations of any cancer, suggesting that immunotherapy may be a promising approach for treatment, according to an international team led by UC San Francisco scientists. One of these mutations, never before observed in any cancer, may shield nascent DM tumors from destruction by the immune system and allow further mutations to develop.

7 Sep 2015

Advanced genetic testing can help identify discrete forms of ASD

Autism spectrum disorders (ASD) are not completely understood neurodevelopmental disorders diagnosed solely on the basis of behavioral assessments of social, communicative and repetitive symptoms. T

2 Sep 2015

New testing methods may help identify genetic mutations potentially linked to autism among children

The use of two newer genetic testing technologies (chromosomal microarray analysis and whole-exome sequencing) among children with autism spectrum disorder may help identify genetic mutations potentially linked to the disorder, according to a study in the September 1 issue of JAMA.

2 Sep 2015

Persistent leukemia-associated genetic mutations linked to increased risk of relapse, reduced overall survival

In preliminary research, the detection of persistent leukemia-associated genetic mutations in at least 5 percent of bone marrow cells in day 30 remission samples among adult patients with acute myeloid leukemia was associated with an increased risk of relapse and reduced overall survival, according to a study in the August 25 issue of JAMA.

26 Aug 2015

Understanding the causes of sudden death in epilepsy: an interview with Professor Sanjay Sisodiya

SUDEP is the sudden unexpected witnessed or unwitnessed, non-traumatic and non-drowning death in people with epilepsy, with or without evidence of a seizure. It doesn’t necessarily have to be in the known context of a seizure, excluding documented status epilepticus, where people have seizure after seizure.

24 Aug 2015

New set of genes can indicate improved survival after surgery for pancreatic cancer patients

A study by the Translational Genomics Research Institute and other major research institutes, found a new set of genes that can indicate improved survival after surgery for patients with pancreatic cancer. The study also showed that detection of circulating tumor DNA in the blood could provide an early indication of tumor recurrence.

21 Aug 2015

Two new studies on eosinophilic granulomatosis with polyangiitis selected by Vasculitis Foundation

The Vasculitis Foundation is pleased to announce it has selected two new research studies on eosinophilic granulomatosis with polyangiitis (EGPA) /Churg Strauss for funding in the amount of $98,000.

14 Aug 2015

Yale researchers confirm NF1 gene as major player in development of skin cancer

A multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important mutation in this deadly disease, and may lead to more targeted anti-cancer therapies.

28 Jul 2015

Case Western cancer researchers develop algorithm to detect DNA copy-number alterations in tumors

An algorithm dubbed ENVE could be the Google for genetic aberrations — and it comes from Case Western Reserve.

24 Jul 2015

Yale researchers provide genetically personalized care for patients with thoracic aortic aneurysms

Researchers at the Aortic Institute at Yale have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care. Their work will also lead to the development of a "dictionary" of genes specific to the disease, according to researchers.

17 Jul 2015

Researchers discover link between acute liver failure and specific gene mutations in young children

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München, the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

3 Jul 2015

Researchers establish link between NBAS gene and acute liver failure

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München (TUM), the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

2 Jul 2015