Whole Genome Sequencing News and Research

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New findings suggest development of pharmacological treatments for uterine leiomyomata

Uterine leiomyomata, or fibroids, are benign tumours that nevertheless affect the health of millions of women. They may cause, for instance, pain, bleeding and infertility. Fibroids are also the most common reason for a hysterectomy; for example, some 8,000 hysterectomies are made in Finland each year.

10 Jun 2013

Mayo Clinic, Cancer Genetics form joint venture to improve cancer care

Mayo Clinic and Cancer Genetics Inc. today launched OncoSpire Genomics, a joint venture with the singular goal of improving cancer care by discovering and commercializing diagnostic tests that leverage next-generation sequencing.

23 May 2013

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.

10 May 2013

Rare mutation confers high risk of osteoporosis and certain cancers

deCODE genetics (an Amgen subsidiary) and Illumina, global leaders in analyzing and understanding the human genome, together with scientists from the National Hospital of Iceland and the University of Iceland reported today in the journal Nature the identification of a rare nonsense mutation that confers high risk of osteoporosis and osteoporosis related traits.

6 May 2013

Findings set the stage for identifying potential new drug targets, treatment strategies for AML

nvestigators for The Cancer Genome Atlas Research Network have detailed and broadly classified the genomic alterations that frequently underlie the development of acute myeloid leukemia, a deadly cancer of the blood and bone marrow.

2 May 2013

Details about genomic landscapes of AML and endometrial cancer revealed

Two studies from The Cancer Genome Atlas program reveal details about the genomic landscapes of acute myeloid leukemia and endometrial cancer.

2 May 2013

New methods boost researchers' analytical powers by incorporating prior knowledge about SNPs function

As scientists probe and parse the genetic bases of what makes a human a human (or one human different from another), and vigorously push for greater use of whole genome sequencing, they find themselves increasingly threatened by the unthinkable: Too much data to make full sense of.

26 Apr 2013

Hospital for Special Surgery receives grant for new genomics center to study autoimmune diseases

Hospital for Special Surgery in New York City has received a $5.6 million grant from The Tow Foundation to establish the Hospital for Special Surgery Genomics Center.

25 Apr 2013

Clinical Research Forum honors studies with potential to benefit human health and welfare

Ten of the most outstanding clinical research projects from institutions around the country have been selected to receive the Clinical Research Forum's Annual Top 10 Clinical Research Achievement Awards.

22 Apr 2013

Study highlights how genes can acquire, adapt to different roles in human evolution

Researchers have designed a method that can universally test for evolutionary adaption, or positive (Darwinian) selection, in any chosen set of genes, using re-sequencing data such as that generated by the 1000 Genomes Project.

19 Apr 2013

Researchers identify gene mutations responsible for subtype of childhood brain tumor

The St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project has identified mutations responsible for more than half of a subtype of childhood brain tumor that takes a high toll on patients.

15 Apr 2013

TGen to present scientific benefits of whole genome sequencing at myeloma workshop

The scientific benefits of whole genome sequencing at the Translational Genomics Research Institute will be presented at the 14th International Myeloma Workshop, April 3-7 at the Kyoto International Conference Center.

4 Apr 2013

Genome sequencing reveals drug-resistant bacteria are transmitted from animals to humans

Researchers have used whole genome sequencing to reveal if drug-resistant bacteria are transmitted from animals to humans in two disease outbreaks that occurred on different farms in Denmark.

26 Mar 2013

First multi-gene DNA sequencing test launched for cancer patients

The first multi-gene DNA sequencing test that can help predict cancer patients' responses to treatment has been launched in the National Health Service, thanks to a partnership between scientists at the University of Oxford and Oxford University Hospitals NHS Trust.

26 Mar 2013

Online database is speeding the search for diseases caused by rogue gene

A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene.

20 Mar 2013

McKesson, AMA partner to create comprehensive reference to identify and track MDx tests

The American Medical Association (AMA) and McKesson have entered into a licensing relationship to offer the healthcare system a consistent and transparent way to identify and track molecular diagnostic (MDx) tests.

26 Feb 2013

Personalis announces availability of Genome Services for Research

Personalis, Inc. today announced availability of its Genome Services for Research, focusing on accuracy in sequencing, analysis, and interpretation of human genomes. Personalis believes that accuracy is crucial in medicine, both in research and ultimately in clinical use.

14 Feb 2013

Researchers assess complete landscape of kinome expression in cancer

When it comes to gene sequencing and personalized medicine for cancer, spotting an aberrant kinase is a home run. The proteins are relatively easy to target with drugs and plenty of kinase inhibitors already exist.

6 Feb 2013

Investigators use genome analysis to eliminate lifetime drug prescription in two children

Using genome-wide analysis, investigators at the Sainte-Justine University Hospital Research Center and the University of Montreal have potentially eliminated a lifetime drug prescription that two children with a previously unknown type of adrenal insufficiency had been receiving for 14 years.

4 Feb 2013

Researchers identify cancer-associated mutations

Two new mutations that collectively occur in 71 percent of malignant melanoma tumors have been discovered in what scientists call the "dark matter" of the cancer genome, where cancer-related mutations haven't been previously found.

25 Jan 2013