Whole Genome Sequencing News and Research

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Study reveals genomic regions that could help understand obesity

A new study has helped to shine light on the genetic pathways underlying obesity. The findings could help develop more personalized ways to help people maintain a healthy weight.

11 Jan 2022

The impact of natural selection on sequence diversity in SARS-CoV-2

Recent genomic analysis demonstrates that the SARS-CoV-2 genome is under two distinct selective forces.

3 Jan 2022

SARS-CoV-2 omicron variant may be less severe than the delta variant

A new study reveals that omicron infections in South Africa are associated with lower rates of hospital admissions and lower disease severity compared to beta and delta infections.

31 Dec 2021

Study suggests saliva swabs may be more suitable for omicron detection

New study findings reveal that saliva samples are more useful than mid-turbinate samples for the accurate detection of omicron infection.

29 Dec 2021

Cheap and accessible methods for genome sequencing will help tackle future pandemics

A worldwide consortium of scientists, led by the Earlham Institute and the University of Liverpool in the UK, mark a significant milestone in equipping researchers in low- and middle-income countries (LMICs) with cheap and accessible methods for sequencing large collections of bacterial pathogens - at a cost of less than $10USD per genome.

21 Dec 2021

Two doses of Moderna COVID-19 vaccine highly effective against all SARS-CoV-2 variants

Kaiser Permanente research published on December 15, 2021 in The British Medical Journal showed 2 doses of Moderna COVID-19 vaccine were highly effective against all SARS-CoV-2 variants; however, vaccine effectiveness against the delta variant moderately declined with increasing time after vaccination.

15 Dec 2021

Containing a Nipah virus outbreak amidst the COVID-19 pandemic

A new study deals with a single case of Nipah virus that occurred in 2021, with no discoverable chain of transmission, apparently ending with the death of the index patient in Kerala.

15 Dec 2021

Experts debate whether whole genome sequencing is necessary for all newborn babies

Genomics England, a government owned company, recently announced a pilot programme of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns.

18 Nov 2021

AI and whole genome sequencing improve quick detection of infectious disease outbreaks

By coupling machine learning with whole genome sequencing, University of Pittsburgh School of Medicine and Carnegie Mellon University scientists greatly improved the quick detection of infectious disease outbreaks within a hospital setting over traditional methods for tracking outbreaks.

17 Nov 2021

Study may help predict genomic changes that may happen in advanced cancers based on therapy

A novel way to look at cancer treatment resistance offers the possibility for identifying genetic mechanisms involved and alternative treatment approaches.

17 Nov 2021

Study provides a new target for therapeutic intervention in Parkinson's disease

In an unexpected discovery, Georgetown University Medical Center researchers have identified what appears to be a significant vascular defect in patients with moderately severe Parkinson's disease.

14 Nov 2021

Rare disease diagnosis by 100,000 genomes pilot

A team of researchers conducted a pilot study that enrolled families and undertook detailed clinical phenotyping of the proband to evaluate the effect of the whole genome sequencing approach on a genetic diagnosis of rare conditions by the NHS in the UK.

12 Nov 2021

Whole senome sequencing can effectively secure a diagnosis for people with rare diseases

A world-first scientific study, published today in the New England Journal of Medicine, has shown that whole genome sequencing can uncover new diagnoses for people across the broadest range of rare diseases investigated to date and could deliver enormous benefits across the NHS.

10 Nov 2021

Study shows how whole genome sequencing could benefit children with cancer

Unravelling the entire genetic code for each child who has been diagnosed with cancer can give a more accurate diagnosis or reveal new treatment options, according to research presented at the NCRI Festival. These are the results of a pilot study of the process known as whole genome sequencing.

8 Nov 2021

CHOP-led network receives NIH-supported resources to unlock mysteries behind pediatric brain tumors

Unlocking the genetic mysteries behind pediatric brain tumors is at the heart of the mission of the Center for Data Driven Discovery in Biomedicine (D3b) at Children's Hospital of Philadelphia (CHOP). The Children's Brain Tumor Network (CBTN), a multi-institutional brain tumor research program with its operations center housed at D3b, has collected tumor samples from patients all over the world.

3 Nov 2021

Mapping C. difficile: Advanced ribotyping technology helps researchers keep track of deadly disease

Interview with Seth Walk, Principal Investigator and Associate Professor, Department of Microbiology and Cell Biology, Montana State University

From Promega Corporation 26 Oct 2021

Researchers identify the genetic changes responsible for drug resistance in tuberculosis

Using cutting-edge genomic sequencing techniques, researchers at the University of Oxford have identified almost all the genomic variation that gives people resistance to 13 of the most common tuberculosis (TB) drug treatments.

19 Oct 2021

AI-based technology rapidly identifies genetic causes of rare disorders with high accuracy

An artificial intelligence (AI)-based technology rapidly diagnoses rare disorders in critically ill children with high accuracy, according to a report by scientists from University of Utah Health and Fabric Genomics, collaborators on a study led by Rady Children's Hospital in San Diego.

15 Oct 2021

AI algorithm accurately detects disease-causing variants in infants with rare diseases

Fabric Genomics and Rady Children's Institute for Genomic Medicine today announced the publication of a retrospective study in Genome Medicine showing that across six leading genomic centers and hospitals, researchers were able to detect more than 90% of disease-causing variants in infants with rare diseases using the Fabric GEM AI algorithm and whole-genome and whole-exome data from previously diagnosed newborns and rare disease patients at Rady Children's Hospital - San Diego and other clinical sites.

15 Oct 2021

Qatar genomics study reveals key historical and social insights into Arab populations

Researchers in Qatar have unveiled a high-resolution map of the genetic structure of Arab and Middle Eastern populations, providing new insights into human history in the region and ancestral patterns that may help to explain local human traits and disease risks.

15 Oct 2021

Whole Genome Sequencing News and Research

Study reveals genomic regions that could help understand obesity

The impact of natural selection on sequence diversity in SARS-CoV-2

SARS-CoV-2 omicron variant may be less severe than the delta variant

Study suggests saliva swabs may be more suitable for omicron detection

Cheap and accessible methods for genome sequencing will help tackle future pandemics

Two doses of Moderna COVID-19 vaccine highly effective against all SARS-CoV-2 variants

Containing a Nipah virus outbreak amidst the COVID-19 pandemic

Experts debate whether whole genome sequencing is necessary for all newborn babies

AI and whole genome sequencing improve quick detection of infectious disease outbreaks

Study may help predict genomic changes that may happen in advanced cancers based on therapy

Study provides a new target for therapeutic intervention in Parkinson's disease

Rare disease diagnosis by 100,000 genomes pilot

Whole senome sequencing can effectively secure a diagnosis for people with rare diseases

Study shows how whole genome sequencing could benefit children with cancer

CHOP-led network receives NIH-supported resources to unlock mysteries behind pediatric brain tumors

Mapping C. difficile: Advanced ribotyping technology helps researchers keep track of deadly disease

Researchers identify the genetic changes responsible for drug resistance in tuberculosis

AI-based technology rapidly identifies genetic causes of rare disorders with high accuracy

AI algorithm accurately detects disease-causing variants in infants with rare diseases

Qatar genomics study reveals key historical and social insights into Arab populations

Sequencing & Genomics: Elevating Science and Healthcare eBook

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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

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