Genomics

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Scientists use CRISPR to develop a genome surveillance tool

Scientists use CRISPR to develop a genome surveillance tool

Scientists have converted CRISPR/Cas9 into a genome surveillance tool, in an effort to develop a more effective way of fighting disease.

27 Mar 2018

Study identifies genetic factors linked to severity of acute viral bronchiolitis

Study identifies genetic factors linked to severity of acute viral bronchiolitis

A scientific study conducted at the State University of Campinas (UNICAMP) in São Paulo State, Brazil, has identified genetic factors associated with the severity of acute viral bronchiolitis. The study was supported by the Sao Paulo Research Foundation - FAPESP. Its results were published in the journal Gene.

27 Mar 2018

Genetic mutation that may protect people from malaria found to be more common

Genetic mutation that may protect people from malaria found to be more common

A genetic mutation that may protect people from malaria, but was thought to be rare, is surprisingly common, suggest the findings of a new study led by scientists at The Scripps Research Institute.

23 Mar 2018

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

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

Study reveals genes that cause extreme nausea and vomiting in pregnancy

Study reveals genes that cause extreme nausea and vomiting in pregnancy

Researchers have identified two genes that are associated with severe nausea and vomiting during pregnancy, a condition known of as hyperemesis gravidarum.

22 Mar 2018

Study uncovers new genetic cause of posterior polymorphous corneal dystrophy

Study uncovers new genetic cause of posterior polymorphous corneal dystrophy

A new genetic cause of corneal dystrophy has been discovered with funding from Fight for Sight by researchers at UCL Institute of Ophthalmology and Moorfields Eye Hospital London, in collaboration with colleagues in the Czech Republic.

22 Mar 2018

Researchers discover 'missing mutation' in severe infant epilepsy

Researchers discover 'missing mutation' in severe infant epilepsy

Researchers have discovered a "missing mutation" in severe infant epilepsy--long-suspected genetic changes that might trigger overactive, brain-damaging electrical signaling leading to seizures.

20 Mar 2018

Genomics England announces appointment of global genomics pioneer as first CEO

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

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

Wales participates in the 100,000 Genomes Project

Wales participates in the 100,000 Genomes Project

Wales has joined the 100,000 Genomes Project, the Welsh Government announced today. The project, now a UK-wide initiative, seeks to transform patient care, encourage genomic discovery and drive a thriving genomics sector.

From Genomics England 20 Mar 2018

Verge joins Genomics England’s Discovery Forum industry partnership

Verge joins Genomics England’s Discovery Forum industry partnership

Genomics England and Verge Genomics, a leading artificial intelligence therapeutics company, announced today that Verge will join Genomics England’s Discovery Forum industry partnership. The partnership aims to translate groundbreaking research into innovative treatments, and ultimately patient benefit, as rapidly as possible.

From Genomics England 20 Mar 2018

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

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

Alex’s experiences of living with rare genetic disease

Alex’s experiences of living with rare genetic disease

In this video, meet participant Alexander Masterson and his mum, Kirsty, who speak about what getting a diagnosis from the 100,000 Genomes Project means to them.

From Genomics England 20 Mar 2018

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

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

‘Fast track’ project shows promising results in cancer whole genome analyses

‘Fast track’ project shows promising results in cancer whole genome analyses

One key aim of the 100,000 Genomes Project is to improve cancer care for NHS patients. Whole genome sequencing in cancer can enable clinicians to choose better treatments and improve outcomes for patients through personalized medicine.

From Genomics England 20 Mar 2018

Scotland study aims to offer precise diagnoses for people with rare genetic diseases

Scotland study aims to offer precise diagnoses for people with rare genetic diseases

People in Scotland with rare genetic diseases are set to benefit from a DNA study that seeks to improve their diagnoses and treatments.

From Genomics England 20 Mar 2018

Whole Genome Sequencing used as diagnostic solution for TB

Whole Genome Sequencing used as diagnostic solution for TB

Public Health England has announced that Whole Genome Sequencing (WGS) is now being used to identify different strains of tuberculosis (TB).

From Genomics England 20 Mar 2018

Discovery aids understanding of amyotrophic lateral sclerosis

Discovery aids understanding of amyotrophic lateral sclerosis

Researchers have discovered a basic molecular mechanism that sheds light on the disease process underlying amyotrophic lateral sclerosis (ALS).

19 Mar 2018

Genetic variant discovery could improve safety, effectiveness of drugs for asthma and COPD

Genetic variant discovery could improve safety, effectiveness of drugs for asthma and COPD

Research from the University of Liverpool, published today in Lancet Respiratory Medicine, identifies a genetic variant that could improve the safety and effectiveness of corticosteroids, drugs that are used to treat a range of common and rare conditions including asthma, and chronic obstructive pulmonary disease (COPD).

16 Mar 2018

Researchers develop way to sequence entire fetal genome by modifying prenatal testing method

Researchers develop way to sequence entire fetal genome by modifying prenatal testing method

For the first time, researchers have developed a way to sequence the entire genome of a fetus by modifying the prenatal testing method known as amniocentesis.

16 Mar 2018

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