Whole Genome Sequencing News and Research

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Brazilian researchers identify new species of parasite in fatal case of visceral leishmaniasis

Brazilian researchers believe they have identified in patients treated at the University Hospital (HU) in Aracaju, state of Sergipe, a new species of parasite that can cause a disease similar to visceral leishmaniasis but is resistant to the treatments currently available.

1 Oct 2019

Deer can pass tuberculosis to humans, CDC warns

Tuberculosis or TB is a highly contagious infection that usually affects the lungs, but it can spread to other parts of the body, such as the spine and brain. Commonly caused by Mycobacterium tuberculosis, which can spread through the air from person to person.

30 Sep 2019

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

Today, PWSA (USA) announced its support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019, a bill to enable States to better provide access to whole genome sequencing clinical services for certain undiagnosed children under the Medicaid program, and for other purposes.

27 Sep 2019

DNA sequencing helps confirm breast cancer link between Leicester sisters

Two Leicester sisters who had their entire genomes sequenced in the hope of finding answers to their family history of breast cancer have learnt they both carry a genetic variant that significantly increases their risk of developing the disease.

27 Sep 2019

Study: Whole genome sequencing can improve surveillance, control of gastroenteritis

A new study into one of the UK's leading causes of gastroenteritis has shown how whole genome sequencing can improve its surveillance and control of the disease.

25 Sep 2019

Improved mapping of genomes from 1,000 Swedish individuals

In so-called whole genome sequencing, surveys are made of the total genome of an individual. It is still relatively rare in healthcare today, but it occurs at an increasing rate, for example in order to make an accurate diagnosis in the case of a rare disease.

25 Sep 2019

Study uncovers new DNA sequences in Swedish genomes

People - or more specifically just Swedes - are more like chimpanzees than previously known. This is indicated in a genetic mapping of one thousand Swedish individuals, where new DNA sequences that should be included in the reference genome have been identified.

24 Sep 2019

Researchers study typhoid genomes of travelers from different parts of the world

Salmonella enterica serovar Typhi causes more than 20 million cases of typhoid fever each year, and disproportionately infects children in low and middle income countries.

From PLOS ONE 17 Sep 2019

Gene coding error likely responsible for rare form of inherited 'short telomere' disease

By combing through the entire genetic sequences of a person with a lung scarring disease and 13 of the person’s relatives, Johns Hopkins Medicine researchers say they have found a coding error in a single gene that is likely responsible for a rare form of the disease and the abnormally short protective DNA caps on chromosomes long associated with it.

From Johns Hopkins Medicine 11 Sep 2019

Researchers find biological system that manages cells' response to opioid drug exposure

A team at Scripps Research in Florida has discovered a biological system that manages cells' response to opioid drug exposure. The unexpected discovery offers new ideas for improving the safety of the one of the most effective, and most abused, group of pain medications.

19 Aug 2019

Mortality risk from yellow fever can be identified sooner

Approximately ten out of every 100 people who are bitten by mosquitos infected by the yellow fever virus develop symptoms of the disease. Although most infected people do not develop the disease, it is lethal to approximately 40% of those who do.

14 Aug 2019

UAMS Myeloma Center receives $542,486 grant from Leukemia & Lymphoma Society

Brian Walker, Ph.D., with the Myeloma Center at the University of Arkansas for Medical Sciences has received a $542,486, three-year grant from the Leukemia & Lymphoma Society to look at changes in the DNA sequence that effects the development and advancement of multiple myeloma, a cancer of plasma cells in the blood.

12 Aug 2019

UCLA-led researchers identify 69 genes that increase risk for autism spectrum disorder

A UCLA-led research team has identified dozens of genes, including 16 new genes, that increase the risk of autism spectrum disorder.

9 Aug 2019

Whole genome sequencing could give officials a powerful weapon to track disease outbreaks

Whole genome sequencing technology may give epidemiologists and healthcare workers a powerful weapon in tracking and, possibly, controlling outbreaks of serious diseases, according to a team of researchers.

8 Aug 2019

'Stealth MRSA' is hiding in its genes to develop antibiotic resistance, study reveals

The superbug methicillin-resistant Staphylococcus aureus (MRSA) is a problem pathogen of long-standing clinical concern due to its resistance to methicillin and related antibiotics, such as oxacillin.

7 Aug 2019

Whole-genome sequencing could transform salmonella detection

Salmonella is among the most common organisms responsible for symptomatic and serious food poisoning. Methods to detect this have evolved from crude microscopic identification to serotype detection.

29 Jul 2019

Whole genome sequencing reveals role of CNVs in insecticide resistance in malaria mosquitoes

Researchers from LSTM, working alongside colleagues from the Wellcome Sanger Institute, Cambridge and the Big Data Institute, University of Oxford, have used whole genome sequencing to understand copy-number variants (CNVs) in malaria mosquitoes and their role in insecticide resistance.

27 Jul 2019

Whole-genome sequencing emerges as a key tool for salmonella detection

The world's food supply will become safer as the food industry shifts to high-resolution, whole-genome sequencing – which examines the full DNA of a given organism all at once. This move to make sequencing ubiquitous will lead to the consistently reliable detection of salmonella.

26 Jul 2019

Research links inherited BRCA2 mutations with increased risk of childhood lymphoma

A report from St. Jude Children's Research Hospital links inherited mutations in the BRCA2 gene with an increased risk of developing non-Hodgkin lymphoma in children and adolescents.

25 Jul 2019

Scientists identify new genetic mutation behind serious skull disorder

A collaboration led by scientists at Oregon State University, the University of Oxford in the United Kingdom and Erasmus University in The Netherlands has identified a new genetic mutation behind the premature fusing of the bony plates that make up the skull.

2 Jul 2019