Whole Genome Sequencing News and Research

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Brigham Genomic Medicine program unravels 30 medical mysteries

A table in a recently published paper tells the story of 30 families who have, sometimes after years of searching, finally received an answer about the condition that has plagued one or more family members.

18 Sep 2018

New framework combines three existing methods to find cancer cell mutations

Cancer cells often have mutations in their DNA that can give scientists clues about how the cancer started or which treatment may be most effective. Finding these mutations can be difficult, but a new method may offer more complete, comprehensive results.

10 Sep 2018

Individualized therapies targeting specific features show promise in transforming cancer treatment

Individualized therapies that target the specific genetic features of tumors have the potential to transform cancer diagnosis, treatment and care.

10 Sep 2018

Researchers provide new virulence clues through genomic study of anthrax strains

By analyzing genomic sequences from more than 400 strains of the bacterium that causes anthrax, researchers have provided the first evidence that the severity - technically known as virulence - of specific strains may be related to the number of copies of certain plasmids they carry.

30 Aug 2018

Current surveillance system does not quickly pick up most listeriosis cases in the EU, study reveals

More than half of the severe listeriosis cases in the European Union belong to clusters, many of which are not being picked up fast enough by the current surveillance system, suggests a new article published in Eurosurveillance.

20 Aug 2018

Research uncovers miscarriage cause, identifies potential targets for treatment

Tragic miscarriages for a couple have led to a discovery with potentially broad implications for future disease treatments, according to a team of researchers at the University of North Carolina School of Medicine. They identified a previously undiscovered gene mutation underlying hydrops fetalis – a fatal condition to fetuses due to fluid buildup in the space between organs.

16 Aug 2018

Tufts researchers win grant to study integration of genomic sequencing into neonatal care

Tufts Medical Center researchers have received a five-year grant award for more than $8 million from the National Center For Advancing Translational Sciences of the National Institutes of Health to study the integration of targeted genomic sequencing into neonatal diagnosis and care.

16 Aug 2018

Researchers move closer to finding potential soft spot in drug-resistant tuberculosis

Antibiotic-resistant tuberculosis is a public health threat. TB and other bacteria become resistant to antibiotics by evolving genetic changes over time, which they can do quite quickly because bacterial lifecycles are short.

15 Aug 2018

Researchers study whole genome sequences of human induced pluripotent stem cells

The therapeutic potential of human induced pluripotent stem cells, which are capable of becoming almost any type of cell in the human body, is well-recognized and broadly pursued, but their mutational burden has not been fully characterized yet.

25 Jul 2018

Mutational burden of stem cells studied to improve disease models and therapies

Researchers from the University of California have characterized the mutational burden of human induced pluripotent stem cells (iPSCs), potentially improving researchers’ ability to prioritize stem cell lines for models of human disease and/or therapies.

25 Jul 2018

Whole genome sequencing shows tight clustering between bacterial isolates in returning travelers

Thirteen patients with OXA-48-producing Klebsiella pneumoniae ST392 have been reported by Sweden and Norway between January and April 2018 - all returning travellers with prior hospital admission in Gran Canaria, Spain.

13 Jul 2018

The Bioethics of AI in the Healthcare Industry

With the advent of artificial intelligence, it is imperative that we examine the ethics of machine learning and data collection. Hugh Whittall, Director of the Nuffield Council on Bioethics, explains what AI is, how it is transforming the healthcare industry and the ethical concerns of the Council.

6 Jul 2018

Study focuses on sexual habits of fungus that causes athlete's foot

The sexual habits of Trichophyton rubrum, the fungus that causes athlete's foot and other kinds of skin and nail infections, were the focus of a study published by Brazilian scientists and international collaborators in the journal Genetics.

29 Jun 2018

UPMC and Pitt announce launch of advanced genome sequencing center

UPMC and the University of Pittsburgh today announced the launch of an advanced genome sequencing center to support clinical diagnostics and research initiatives in precision medicine and immunotherapy.

27 Jun 2018

Harnessing Pediatric Cancer Genomic Data in the Cloud

Dr. Jinghui Zhang, an esteemed computational biologist at St. Jude Children's Research Hospital discusses her latest study and how technology such as cloud computing is changing the way that scientists carry out research.

21 Jun 2018

Scientists discover genetic causes underlying group of related infant cancers

The genetic causes of a group of related infant cancers have been discovered by scientists at the Wellcome Sanger Institute, the University of Wuerzburg and their collaborators.

18 Jun 2018

Study suggests state-of-the-art genomic testing for routine autopsy of stillbirths

Pregnancy loss and the death of a newborn baby are devastating events, and as of today around 25% of these perinatal deaths are unexplained despite autopsy.

18 Jun 2018

Researchers isolate bacteria that pose triple threat from a patient in the U.S.

Researchers from the Emory Antibiotic Resistance Center describe the first strain of carbapenem-resistant, hypermucoviscous Klebsiella pneumoniae exhibiting colistin heteroresistance and enhanced virulence isolated from a patient in the United States.

11 Jun 2018

Free-floating DNA analysis test may help detect early-stage lung cancer

A test that analyzes free-floating DNA in the blood may be able to detect early-stage lung cancer, a preliminary report from the ongoing Circulating Cell-Free Genome Atlas study suggests.

4 Jun 2018

Researchers call for new genetic tests for congenital diseases

Researchers have discovered that genetic mutations called epivariations are the cause of certain neurodevelopmental disorders and congenital diseases.

25 May 2018