Whole Genome Sequencing News and Research

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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

Genome sequencing data gives important clues on cancer

Genome sequencing data once regarded as junk is now being used to gain important clues to help understand disease.

25 Jan 2013

Scientists identify a possible lead in treatment of two childhood leukemia subtypes

Research led by St. Jude Children's Research Hospital scientists has identified a possible lead in treatment of two childhood leukemia subtypes known for their dramatic loss of chromosomes and poor treatment outcomes.

21 Jan 2013

Genomic technology revolutionizes gene discovery and disease understanding in autism

Genomic technology has revolutionized gene discovery and disease understanding in autism, according to an article published in the December 20 issue of the journal Neuron.

20 Dec 2012

Apophysomyces fungus kills 5 people following a massive Joplin tornado

A fast growing, flesh-eating fungus killed 5 people following a massive tornado that devastated Joplin, Mo., according to two new studies based on genomic sequencing by the Translational Genomics Research Institute (TGen) and the U.S. Centers for Disease Control and Prevention (CDC).

16 Dec 2012

Genomic sequencing reveals therapeutic drug targets for metastatic triple-negative breast cancer

Genomic sequencing has revealed therapeutic drug targets for difficult-to-treat, metastatic triple-negative breast cancer (TNBC), according to an unprecedented study by the Translational Genomic Research Institute (TGen) and US Oncology Research.

7 Dec 2012

Genome sequencing reveals previously unreported mutations in metastatic TNBC

Whole genome sequencing has revealed previously unreported mutations in metastatic triple-negative breast cancer (TNBC), according to a study published by the journal Molecular Cancer Therapeutics.

6 Dec 2012

Combination of blood test and whole-genome sequencing technology could screen cancers

Scientists at the Johns Hopkins Kimmel Cancer Center have combined the ability to detect cancer DNA in the blood with genome sequencing technology in a test that could be used to screen for cancers, monitor cancer patients for recurrence and find residual cancer left after surgery.

29 Nov 2012

Blood test and gene sequencing combined to detect cancer

29 Nov 2012

GigaScience announces publication of whole-genome sequencing and analysis of Wuzhishan Pig

The international open-access journal GigaScience announces the publication of the whole-genome sequencing and analysis of the Wuzhishan Pig, an extensively inbred, miniature pig, which can serve as an excellent model for human medical research.

16 Nov 2012

MRSA outbreak tracked and contained using DNA sequencing

Scientists have used DNA sequencing for the first time to effectively track the spread of, and ultimately contain, an outbreak of methicillin-resistant Staphylococcus aureus (MRSA), according to new research published in The Lancet Infectious Diseases.

14 Nov 2012

Whole genome sequencing could become prenatal standard of care

Whole genome sequencing of the DNA code of prenatal samples accurately and quickly identifies the location of chromosomal abnormalities, and could become a prenatal standard of care, researchers propose.

9 Nov 2012

Studies provide first clues of balanced de novo chromosomal rearrangements

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco.

8 Nov 2012

Ancestry could simplify searches for harmful mutations

Explosive advancement in human genome sequencing opens new possibilities for identifying the genetic roots of certain diseases and finding cures. However, so many variations among individual genomes exist that identifying mutations responsible for a specific disease has in many cases proven an insurmountable challenge.

26 Oct 2012

Research roundup: Financial impact of reducing surgical complications; Pay for performance to doctors, hospitals yields mixed results

The authors write: "We found that if a hospital's surgical inpatient volume is not growing, such a program results in negative cash flow. We also found that if a hospital's surgical volume is growing, and if the hospital can sufficiently reduce the average length-of-stay for surgical patients without complications, the cash flow could be positive. We recommend that hospitals with limited growth prospects that are nonetheless contemplating a surgical complication reduction program establish agreements with payers to share in any savings generated by the program."

20 Oct 2012

Translational Genomics Research Institute creates new center for rare childhood disorders

The Translational Genomics Research Institute (TGen) today announced the creation of a new center that could have life changing effects on the lives of potentially thousands of children and their families.

6 Oct 2012

Researchers track spread of human invasive non-Typhoidal Salmonella in sub-Saharan Africa

A new study out today (Sunday 30 September) reveals that the emergence and spread of a rapidly evolving invasive intestinal disease, that has a significant mortality rate (up to 45%) in infected people in sub-Saharan Africa, seems to have been potentiated by the HIV epidemic in Africa.

1 Oct 2012

Intellectual disability often results from genetic causes that are not inherited

New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children.

28 Sep 2012

Consumer Genetics Conference to take place in Boston from Oct. 3-5

The 4th Annual Consumer Genetics Conference, taking place October 3-5 at the Seaport Hotel in Boston, will include a keynote presentation by George Church that will provide a forthright and candid assessment of new sequencing technologies, including the emergence of nanopore DNA sequencing, current trends in personal genomics, and projections on the future path of medical genomics.

24 Sep 2012

New NHGRI grants to help develop technologies to dramatically reduce DNA sequencing costs

Grants of almost $19 million will help to develop technologies to dramatically reduce the cost of DNA sequencing, the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, announced today.

15 Sep 2012