Whole Genome Sequencing News and Research

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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

Researchers identify novel epigenetic mutations as cause of neurodevelopmental, congenital disorders

Researchers have identified a type of genetic aberration to be the cause of certain neurodevelopmental disorders and congenital diseases, such as autism and congenital heart disease, which are undetectable by conventional genetic testing.

25 May 2018

Study provides blueprint of how fruit flies can be used to screen potentially pathogenic human genes

It all began with one young patient; a 7-year old boy who was born without a thymus, an important organ of the immune system, and without functional immune cells. The boy also presented with cardiac and skeletal defects, dysmorphic craniofacial features and some signs of autistic behaviors.

23 May 2018

Whole genome sequencing could prevent transfusion reactions

Researchers have recently published a study which may reduce complications and save lives for blood transfusion recipients.

18 May 2018

ECDC whole genome sequencing study helps understand prevalence of drug-resistant gonorrhea

Can whole genome sequencing illustrate changes in drug susceptibility of gonorrhoea to antimicrobials used for treatment and so help to define more effective treatment regimens? The first study of this kind within an international surveillance programme for sexually transmitted infections shows distribution of drug-resistant gonorrhoea strains across Europe.

17 May 2018

First genomic survey of gonorrhea maps antibiotic resistance across Europe

The first European-wide genomic survey of gonorrhea has mapped antibiotic resistance in this sexually transmitted disease throughout the continent.

16 May 2018

Blood biopsies may offer more comprehensive genetic information than bone marrow tests, shows research

Bone marrow biopsies are the gold standard for diagnosing and monitoring the progression of multiple myeloma, but these procedures are far too invasive to perform at every patient visit.

27 Apr 2018

New technique harnesses 'natural barcodes' to facilitate better cell tracking

Each of us carries in our genomes about 10 million genetic variations called single nucleotide polymorphisms, which represent a difference of just one letter in the genetic code.

24 Apr 2018

Gene related to high fatality could be used as biomarker in patients with P. aeruginosa infection

Researchers discovered an easily measured gene linked to a high fatality rate, which could be used as a novel prognostic biomarker in patients with a Pseudomonas aeruginosa (P. aeruginosa) bloodstream infection, according to research presented at the 28th European Congress of Clinical Microbiology and Infectious Diseases.

23 Apr 2018

Researchers identify target gene in P. aeruginosa infection

Researchers have discovered a gene linked to fatal outcomes in Pseudomonas aeruginosa (P. aeruginosa) infection that could be used as a novel prognostic biomarker and treatment target.

23 Apr 2018

Rare variants in non-coding DNA inherited from parents heighten autism risk

In recent years, researchers have firmly established that gene mutations appearing for the first time, called de novo mutations, contribute to approximately one-third of cases of autism spectrum disorder.

20 Apr 2018

Bacterial 'gene swapping' affects emergence and spread of infectious diseases

A new study by scientists at the University of Liverpool documents, for the first time, how the ability of bacteria to swap genetic material with each other can directly affect the emergence and spread of globally important infectious diseases.

17 Apr 2018

Lassa fever epidemic in Nigeria beginning to slow, but concern remains

After nearly 400 confirmed infections and 100 deaths, the spread of Lassa fever in Nigeria is beginning to slow but the epidemic is far from contained, the World Health Organization and the Nigeria Centre for Disease Control have warned.

28 Mar 2018

Briefing note examines ethical issues in whole genome sequencing of babies

The Nuffield Council on Bioethics has today published a briefing note that examines the ethical issues raised by whole genome sequencing of babies.

28 Mar 2018

New computational method helps to identify tumor cell mutations with greater accuracy

A new computational method developed by researchers at the New York Genome Center allows scientists to identify rare gene mutations in cancer cells with greater accuracy and sensitivity than currently available approaches.

22 Mar 2018

Genomics England announces appointment of global genomics pioneer as first CEO

Genomics England announces the appointment of its first Chief Executive Officer (CEO) today. Global genomics pioneer Professor John Mattick will join Genomics England in June. He will lead the organization as work done in the 100,000 Genomes Project provides the foundation for the systems NHS England is mobilizing in its ground breaking Genomic Medicine Service.

From Genomics England 20 Mar 2018

Groundbreaking 100,000 Genomes Project achieves important milestone to transform NHS care

The Department of Health and Social Care, NHS England and Genomics England today announced reaching the 50,000 whole human genome sequences landmark within the 100,000 Genomes Project.

From Genomics England 20 Mar 2018

Genomics England announces new partnership to improve efficiency of next-generation sequencing analysis

Today (8 January 2018) at the annual J.P. Morgan Healthcare Conference, Edico Genome and Genomics England announced a new partnership to strengthen the accuracy and consistency of next-generation sequencing data analysis in Genomics England’s Rare Disease Pilot.

From Genomics England 20 Mar 2018

Royal College of Pathologists‘ bulletin provides summary of Tissue Handling Workshop

A recent article in the Royal College of Pathologists‘ bulletin provides a summary of our recent Tissue Handling Workshop.

From Genomics England 20 Mar 2018

Whole Genome Sequencing News and Research

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

Researchers call for new genetic tests for congenital diseases

Researchers identify novel epigenetic mutations as cause of neurodevelopmental, congenital disorders

Study provides blueprint of how fruit flies can be used to screen potentially pathogenic human genes

Whole genome sequencing could prevent transfusion reactions

ECDC whole genome sequencing study helps understand prevalence of drug-resistant gonorrhea

First genomic survey of gonorrhea maps antibiotic resistance across Europe

Blood biopsies may offer more comprehensive genetic information than bone marrow tests, shows research

New technique harnesses 'natural barcodes' to facilitate better cell tracking

Gene related to high fatality could be used as biomarker in patients with P. aeruginosa infection

Researchers identify target gene in P. aeruginosa infection

Rare variants in non-coding DNA inherited from parents heighten autism risk

Bacterial 'gene swapping' affects emergence and spread of infectious diseases

Lassa fever epidemic in Nigeria beginning to slow, but concern remains

Briefing note examines ethical issues in whole genome sequencing of babies

New computational method helps to identify tumor cell mutations with greater accuracy

Genomics England announces appointment of global genomics pioneer as first CEO

Groundbreaking 100,000 Genomes Project achieves important milestone to transform NHS care

Genomics England announces new partnership to improve efficiency of next-generation sequencing analysis

Royal College of Pathologists‘ bulletin provides summary of Tissue Handling Workshop

Sequencing & Genomics: Elevating Science and Healthcare eBook

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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