Whole Genome Sequencing News and Research

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New test could identify resistant tuberculosis faster

Tuberculosis (TB) disease rates in some parts of London are as high as in Sub-Saharan Africa, and drug-resistant strains are becoming increasingly common.

From Oxford Gene Technology 14 May 2015

UCL-led team develops new technique to find resistant TB faster

The time needed to genetically sequence the bacteria causing tuberculosis (Mtb) from patient samples has been reduced from weeks to days using a new technique developed by a UCL-led team. This could help health service providers to better treat disease, control transmission of this infection, and monitor outbreaks.

From Oxford Gene Technology 13 May 2015

Scientists identify gene that causes hereditary hypertension and brachydactyly type E

Individuals with this altered gene have hereditary hypertension (high blood pressure) and at the same time a skeletal malformation called brachydactyly type E, which is characterized by unusually short fingers and toes. The effect on blood pressure is so serious that -- if left untreated -- it most often leads to death before age fifty.

11 May 2015

St. Jude scientists develop new computer tool to find DNA duplications and deletions in tumors

St. Jude Children's Research Hospital scientists have developed a significantly better computer tool for finding genetic alterations that play an important role in many cancers but were difficult to identify with whole-genome sequencing.

5 May 2015

Study may point to immediate cause of CF exacerbations

In the genetic disorder cystic fibrosis (CF), the most severe symptoms are recurring episodes of lung inflammation and bacterial infection (known as "exacerbations") that happen from one to three times a year and cause ever-increasing amounts of lung damage through the course of a CF patient's life.

9 Apr 2015

Mobidiag announces CE-IVD marking and launching of Amplidiag C. difficile+027 test

Mobidiag Ltd, a Finnish molecular diagnostics company specialized in the development of innovative diagnostics solutions for infectious diseases, today announced the launch of Amplidiag C. difficile+027, a qualitative qPCR-based test performed from DNA extracted from stool in suspected cases of C. difficile infection (CDI).

9 Apr 2015

Scientists uncover the genetic root of prostate cancer

Scientists have revealed the root of prostate cancers in individual men, discovering that despite huge genetic variety between tumours they also share common gene faults - insight that could offer new treatment hopes, according to research published in Nature today (Wednesday).

2 Apr 2015

Iceland paint a genomic picture for an entire nation

Researchers in Iceland have published the largest ever studies of whole-genome data and effectively deduced the genetic code of “an entire nation.”

26 Mar 2015

Key finding may point to immediate cause of CF exacerbations

24 Mar 2015

GenomeNext completes whole genome sequencing analysis at unprecedented 1,000 genomes per day

GenomeNext, LLC, a leader in genomic data management and integrated analysis, announced today that, through the "Intel Heads In The Clouds Challenge on Amazon Web Services" with support from JHC Technology, and in conjunction with Nationwide Children's Hospital, has benchmarked whole genome sequencing analysis at an unprecedented 1,000 genomes per day.

18 Mar 2015

UH professor part of personalized medicine panel session at SXSW Health and MedTech Expo

University of Houston professor Preethi Gunaratne will be part of a panel addressing personalized medicine at the South by Southwest (SXSW) Health and MedTech Expo in Austin Tuesday, March 17.

13 Mar 2015

Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced the availability of Neurome, a whole exome sequencing service designed to aid the diagnosis of rare neurological disorders in pediatric populations.

From Quest Diagnostics 10 Mar 2015

Study shows that households can serve as reservoir for transmitting MRSA

Households can serve as a reservoir for transmitting methicillin-resistant Staphylococcus aureus (MRSA), according to a study published this week in mBio, the online open-access journal of the American Society for Microbiology. Once the bacteria enters a home, it can linger for years, spreading from person to person and evolving genetically to become unique to that household.

10 Mar 2015

Whole genome sequencing may help identify disease risks

Using a small amount of blood or saliva, a technology called whole genome sequencing makes that possible - and more than half of parents said they'd not only be interested in the technology for themselves but for their children too, a new nationally-representative University of Michigan study shows.

10 Mar 2015

Rare, aggressive subtype of pediatric acute lymphoblastic leukemia has surprisingly few mutations

The St. Jude Children's Research Hospital--Washington University Pediatric Cancer Genome Project reports that a highly aggressive form of leukemia in infants has surprisingly few mutations beyond the chromosomal rearrangement that affects the MLL gene. The findings suggest that targeting the alteration is likely the key to improved survival.

9 Mar 2015

Pediatric Cancer Genome Project identifies genetic basis of three pediatric melanoma subtypes

The St. Jude Children's Research Hospital—Washington University Pediatric Cancer Genome Project found that melanoma in some adolescent and adult patients involves many of the same genetic alterations and would likely respond to the same therapy.

5 Mar 2015

Bioethics Commission makes recommendations on preparedness for public health emergencies

Today the Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) reported that the federal government has both a prudential and a moral responsibility to actively participate in coordinated global responses to public health emergencies wherever they arise.

28 Feb 2015

New strategy may ensure safety of adult epidermal stem cells before performing treatments

A team of European researchers has devised a strategy to ensure that adult epidermal stem cells are safe before they are used as treatments for patients. The approach involves a clonal strategy where stem cells are collected and cultivated, genetically modified and single cells isolated before being rigorously tested to make sure they meet the highest possible safety criteria.

28 Feb 2015

Study shows that de novo mutations can be detected in human in vitro fertilized embryos using PGD

Reprogenetics, the largest U.S. genetics laboratory specializing in Preimplantation Genetic Diagnosis (PGD), announced today the publication of new clinical data in the March issue of Genome Research demonstrating that de novo single base mutations can be detected in embryos after in vitro fertilization (IVF).

16 Feb 2015

BGI study tracks accuracy of NIFTY prenatal test

BGI has published a study tracking the clinical performance of its whole genome sequencing-based non-invasive prenatal test (the NIFTY test) in nearly 147,000 pregnancies, the largest such study to date. The results showed high sensitivity and specificity and no significant difference between high-risk and low-risk pregnant women.

6 Feb 2015