Exome Sequencing News and Research

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Parkinson's Institute, Population Diagnostics discover new genes relevant to Parkinson's disease

The Parkinson's Institute and Clinical Center announced today that they, in partnership with Population Diagnostics, Inc., have discovered a number of new genes relevant to the cause of Parkinson's disease.

20 Nov 2013

Collaborative initiative set up to create precision medicine treatment pathways for advanced cancers

The Joint Center for Cancer Precision Medicine, a collaborative initiative among Dana-Farber Cancer Institute, Brigham and Women's Hospital, Boston Children's Hospital, and the Broad Institute of MIT and Harvard, has been established to create "precision medicine treatment pathways" for patients with advanced cancers and to speed the development of personalized therapies.

16 Nov 2013

Researchers use new approach to parse roles of key mutated protein that causes familial AD

Researchers at the University of California, San Diego School of Medicine have used genetic engineering of human induced pluripotent stem cells to specifically and precisely parse the roles of a key mutated protein in causing familial Alzheimer's disease, discovering that simple loss-of-function does not contribute to the inherited form of the neurodegenerative disorder.

15 Nov 2013

Coding variants in immune disease-related genes play only small part in risk for psoriasis

Coding variants in immune disease-related genes play only a small part in the overall genetic risk for psoriasis, according to a new study led by Anhui Medical University and BGI.

10 Nov 2013

New study uses genomic sequencing to develop treatments for castration-resistant prostate cancer

A new study at Mayo Clinic is using genomic sequencing to develop customized treatments for men with castration-resistant prostate cancer, a progressive and incurable stage of prostate cancer, which no longer responds to hormone therapies that stop or slow testosterone production.

7 Nov 2013

Study identifies new genes involved in autism

A scientific study published on the journal Molecular Psychiatry identifies new genes involved in autism, a polygenic disorder that is difficult to diagnose and treat. Autism spectrum disorders represent a group of neurodevelopmental disorders which affect one out of 80-100 children.

23 Oct 2013

Claritas Partners With Life Tech, Lockheed To Sequence Military Veteran Exomes

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21 Oct 2013

Personalis launches early access program to Personalis ACE Clinical Exome

Personalis, Inc., the leading provider of advanced medical exome and genome sequencing and interpretation services today announced the launch of an early access program to the Personalis ACE Clinical Exome, a single test that integrates enhanced exome sequencing with genome-wide structural variant detection to increase diagnostic yield.

21 Oct 2013

Researchers identify novel gene mutation that causes common variable immunodeficiency

A 30-year-old woman with a history of upper respiratory infections had no idea she carried an immunodeficiency disorder - until her 6-year-old son was diagnosed with the same illness.

18 Oct 2013

CNIO researchers perform first exome sequencing for non-infiltrating bladder cancer

Bladder cancer represents a serious public health problem in many countries, especially in Spain, where 11,200 new cases are recorded every year, one of the highest rates in the world. The majority of these tumours have a good prognosis -- 70-80% five-year survival after diagnosis -- and they do not infiltrate the bladder muscle at the time of diagnosis -- in around 80% of cases.

14 Oct 2013

Individuals diagnosed with ASD more likely to have gene deletions, shows analysis

Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder.

4 Oct 2013

Life Technologies announces the Ion AmpliSeq Exome Certified Service Provider program

Life Technologies Corporation today announces the Ion AmpliSeq™ Exome Certified Service Provider program, a global organization of some of the world's top service providers that will sequence and analyze human exomes in as little as two days.

10 Sep 2013

UCSF to receive grant to study gene sequencing aimed at detecting disorders in newborns

UC San Francisco will receive $4.5 million over the next five years for a pilot project to assess whether large-scale gene sequencing aimed at detecting disorders and conditions can and should become a routine part of newborn testing.

6 Sep 2013

BTNL2 gene mutation that impacts immune function increases risk of prostate cancer

A team of researchers led by Janet Stanford, Ph.D., of Fred Hutchinson Cancer Research Center has discovered that mutations in the gene BTNL2, which encodes a protein involved in regulating T-cell proliferation and cytokine production - both of which impact immune function - increase the risk of developing prostate cancer.

30 Aug 2013

Researchers identify mutation in CNGB1 gene causing PRA in Phalene and Papillon

Professor Hannes Lohi's research group at the University of Helsinki and Folkh-lsan Research Center, Finland, has identified a mutation in CNGB1 gene, causing progressive retinal atrophy (PRA) in the Phalene and Papillon dog breeds.

30 Aug 2013

Illumina announces availability of its newest reagent kits for MiSeq benchtop sequencer

Illumina, Inc. today announced the availability of its newest reagent kits for the MiSeq, the industry's most accurate and easiest-to-use benchtop sequencer. The improved chemistry doubles sequencing output to 15 gigabases (Gb) by increasing the number of sequencing reads (up to 25 million reads) and overall read length (up to 2x300 base pairs). These innovations enable researchers to perform new applications including exome sequencing on the MiSeq.

From Illumina, Inc. 19 Aug 2013

Study reveals new genetic mutations that cause epilepsy

Results from a landmark international study using state of the art technology has revealed new genetic mutations that cause epilepsy. The findings could help to advance treatments for the most severe forms of epilepsy.

13 Aug 2013

Study of childhood epilepsies links two new genes to severe forms of disease

A genetic study of childhood epilepsies has linked two new genes to severe forms of disease and provides a novel strategy for identifying therapy targets. This study used a cutting-edge genetic technique, called exome sequencing, to search for new mutations that are not inherited.

12 Aug 2013

DNA mutation 'signature' identified in urinary tract cancers linked to birthwort herb

Genomic sequencing experts at Johns Hopkins partnered with pharmacologists at Stony Brook University to reveal a striking mutational signature of upper urinary tract cancers caused by aristolochic acid, a plant compound contained in herbal remedies used for thousands of years to treat a variety of ailments such as arthritis, gout and inflammation.

8 Aug 2013

Largest data set of cancer-specific genetic variations generated by NCI scientists

Scientists at the National Cancer Institute have generated a data set of cancer-specific genetic variations and are making these data available to the research community, according to a study published in Cancer Research, a journal of the American Association for Cancer Research.

16 Jul 2013