Whole Genome Sequencing News and Research

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Genetic variations affect and rewire phosphorylation signaling networks in SARS-CoV-2 infection

Researchers study human single nucleotide variants (SNVs) using machine learning to identify amino acid changes that alter kinase-bound sequence motifs.

29 Nov 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

How effective is the COMIRNATY BNT162b2 vaccine against the SARS-CoV-2 Lambda variant?

Now, researchers from Public Health Services Israel have been investigating a new variant called Lambda to see if it qualifies as a variant of concern. Their research is published in the journal Eurosurveillance.

16 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

First detection of SARS-CoV-2 remdesivir resistance in an immunocompromised patient

A research group from the US (led by experts from Yale University School of Medicine) recently presented a case of an immunocompromised female patient with acquired deficiency of B lymphocytes who subsequently developed a protracted course of the infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

10 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

Increase in SARS-CoV-2 seroprevalence in Irish HCWs during third wave of pandemic

Healthcare workers and people they live with are at an increased risk of contracting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Hospital healthcare workers (HCWs) worldwide have been found to have a higher number of SARS-CoV-2 infections and higher antibody seroprevalence compared to the general population.

8 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

SARS-CoV-2 detected in white-tailed deer with possible zooanthroponotic spillover events

The study aimed to test the hypothesis that the infection and transmission of SARS-CoV-2 of deer occurred in nature.

4 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

Curious case of SARS-CoV-2 Delta variant in a dog

In a recent study, researchers document the detection and sequencing of an AY.3 virus from a 12-year-old Collie living with a SARS-CoV-2-infected owner.

1 Nov 2021

Study suggests increased pediatric COVID-19 hospitalizations related to increased Delta variant incidence

The current study compares the severity of the illness in children infected by the wild-type strain compared with the VOC now prevalent in terms of outcomes in this age group.

1 Nov 2021

Clinical assay validation for SARS-CoV-2 sequencing using Swift Biosciences amplicon panel

The current study used the guidelines of the FDA to validate the one-tube SARS-CoV-2 Swift Normalase Amplicon Panel Version 2.0 from Swift Biosciences.

31 Oct 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

Cell-free DNA can help detect measurable residual disease in children with medulloblastoma

Scientists at St. Jude Children's Research Hospital have shown that cell-free DNA from cerebrospinal fluid (CSF) can be used to detect measurable residual disease (MRD) in children treated for the brain tumor medulloblastoma.

21 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