Whole Genome Sequencing News and Research

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Scientists uncover critical genetic mutation in patients with MDS

Scientists have uncovered a critical genetic mutation in some patients with myelodysplastic syndromes - a group of blood cancers that can progress to a fatal form of leukemia.

16 Dec 2011

Scientists identify gene mutation behind Waldenstrom's macroglobulinemia

Scientists at Dana-Farber Cancer Institute have identified a gene mutation that underlies the vast majority of cases of Waldenstrom's macroglobulinemia, a rare form of lymphoma that has eluded all previous efforts to find a genetic cause.

13 Dec 2011

New research on diagnosis and treatment of leukemia to be presented at 53rd ASH meeting

Despite major research advances over the last several decades that have helped deliver improved therapeutic options for leukemia, the condition remains deadly. Specialists are in need of new options to help diagnose the condition earlier and new therapies that will extend patients' lives. New research addressing important updates on the diagnosis and treatment of leukemia will be presented today at the 53rd Annual Meeting of the American Society of Hematology.

12 Dec 2011

Initial results from whole-genome sequencing trial for triple negative breast cancer

Initial results from an ongoing clinical trial, the first designed to examine the utility of whole-genome sequencing for triple negative breast cancer, were reported today during the CRTC-AACR San Antonio Breast Cancer Symposium.

9 Dec 2011

Longer looks: Life of a Medicare demo project; Broken hearts; AIDS funding

Today's Medicare demonstration project might determine how physicians interact with the program tomorrow, so naturally such projects generate a lot of buzz in the health care community. Lately, some of that buzz has been about how demos might provide part of the solution for Medicare's payment problems.

2 Dec 2011

First results from whole-genome sequencing clinical trial on triple negative breast cancer

Triple negative breast tumors, which make up nearly 20 percent of breast cancers, do not respond to treatment with targeted therapies such as Herceptin-(trastuzumab).

2 Dec 2011

GPS at WUSTL now offers new cancer genetic test

Physicians can now take advantage of a new genetics test -- one of the first of its kind to be offered in the United States -- that can help determine the best treatment for cancer patients.

23 Nov 2011

BGI, Children's Hospital of Philadelphia partner to target pediatric diseases

The Children's Hospital of Philadelphia and BGI, the world's largest genomics institute, today announced they have formed a partnership, BGI@CHOP, to conduct large-scale human genome sequencing and bioinformatics analysis at a newly established, state-of-the-art Joint Genome Center at Children's Hospital.

10 Nov 2011

Whole genome sequencing can identify strains of caries-causing bacteria

Severe early childhood caries can destroy most of a child's teeth by age three, and disproportionately affects underserved populations, including American Indians and Alaskan natives. Although the link between Lactobacilli bacteria (Lb) and severe early childhood caries has been known for almost a century, progress in delineating which of 140 Lb species are responsible for the disease has remained elusive.

4 Nov 2011

Scientists studying complete genetic profiles of centenarians to find the secret of longevity

Scientists have announced Wednesday that they would examine some of the oldest citizens with one of the newest scientific tools: whole-genome sequencing, the deciphering of a person’s complete collection of DNA. They speculate that DNA from very old healthy people could offer clues to how they lived so long. And that could one day lead to medicines to help people stay disease-free longer.

27 Oct 2011

Whole genome sequencing study to determine causes of idiopathic human diseases

Scripps Health announced today it has launched an innovative clinical research study that is using whole genome sequencing to help determine the causes of idiopathic human diseases -- those serious, rare and perplexing health conditions that defy a diagnosis or are unresponsive to standard treatments.

18 Oct 2011

Scientists identify 16M SNPs that associate with risk of gout, serum uric acid levels

Scientists at deCODE Genetics and academic collaborators from Iceland, Norway, Denmark, the Netherlands and the USA report the discovery of low frequency variants in the human genome that associate with risk of gout, a common inflammatory arthritis, and serum uric acid levels.

10 Oct 2011

Complete Genomics, Scripps collaborate to unlock genetic secrets of lifelong health

Complete Genomics Inc., the whole human genome sequencing company, and the not-for-profit Scripps Health system today announced a major collaboration that will help further the Wellderly Study, a landmark scientific research initiative aimed at unlocking the genetic secrets of lifelong health.

4 Oct 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

Researchers trace source of latest cholera pandemic

Researchers have used next generation sequencing to trace the source and explain the spread of the latest (seventh) cholera pandemic. They have also highlighted the impact of the acquisition of resistance to antibiotics on shaping outbreaks and show resistance was first acquired around 1982.

25 Aug 2011

DTU, TGen researchers pinpoint source of cholera outbreak in Haiti

Employing technology that reads the entire DNA code, researchers led by the Translational Genomics Research Institute (TGen) and the Technical University of Denmark (DTU) have pinpointed the source of a cholera outbreak in Haiti that killed more than 6,000 people and sickened 300,000.

24 Aug 2011

Illumina and University of Oxford collaborate to sequence whole genomes

Illumina, Inc. today announced it will collaborate with the University of Oxford to sequence the whole genomes of 500 individuals afflicted with a range of life-threatening diseases that pose major challenges in diagnosis, treatment, and care. Illumina HiSeq™ 2000 systems will be used to generate sequence data for the 500 genomes.

From Illumina, Inc. 3 Aug 2011

SMRT DNA sequencing technology reveals genetic profile of German E. coli bacteria

An international team of scientists has successfully employed single molecule, real-time DNA sequencing technology from Pacific Biosciences of California, Inc. to provide valuable insights into the pathogenicity and evolutionary origins of the highly virulent bacterium responsible for the German E. coli outbreak.

28 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

Extensive genomic, transcriptional diversity identified through massively parallel DNA and RNA sequencing

In a paper published in the online edition of Nature Genetics on July 3, 2011, sequencing specialists at Axeq Technologies, and scientists from Macrogen Inc., Genomic Medicine Institute at Seoul National University, Psoma Therapeutics Inc., Brigham and Women's Hospital and Harvard Medical School reported the discovery of a wide range of novel genetic variants based on the deep sequencing of 18 genomes and 17 transcriptomes of unrelated Korean individuals.

8 Jul 2011