Whole Genome Sequencing News and Research

RSS

A quantitative assessment of SARS-CoV-2 bioaerosol production

In an effort to improve the sensitivity and sample recovery of mask sampling, researchers developed a mask sampling tool to assess bioaerosol variation.

28 Jul 2021

Comprehensive genomic sequencing essential to capitalize precision medicine for pediatric cancer care

St. Jude Children's Research Hospital investigators have demonstrated that comprehensive genomic sequencing of all pediatric cancer patients is feasible and essential to capitalize on the lifesaving potential of precision medicine.

26 Jul 2021

Study examines the host and viral factors that drive SARS-CoV-2 evolution

In a new paper recently uploaded to the preprint server bioRxiv*, two clinical isolates of SARS-CoV-2 are monitored by whole genome sequencing as they are passaged through several generations of Vero cells or human-derived primary nasal epithelial cells (PNEC), allowing direct observation of the occurrence of virus enhancing mutations and the way in which host cell factors shape virus evolution.

21 Jul 2021

Transient chromosomal errors can spur the formation of tumors, study finds

A Ludwig Cancer Research study has found that inducing random chromosome instability (CIN) events in mice for as little as one week is enough to trigger harmful chromosomal patterns in cells that spur the formation of tumors.

16 Jul 2021

Mass spectrometry: An important tool to unravel mechanisms underlying Huntington's disease

Mass spectrometry has emerged as an important analytical tool for gaining a better understanding of mechanisms underlying Huntington's disease (HD), alongside the increased availability of cell and animal models of the disease.

14 Jul 2021

The progressive increase in transmissibility and virulence of emerging SARS-CoV-2 variants could lead to a significantly more deadly pandemic

Researchers from Toronto University, Canada, recently showed that these emerging VOCs were linked to increased virulence, as determined by hospitalization risk, ICU admission, and mortality. This study is currently available on the medRxiv* preprint server.

12 Jul 2021

Mother-to-baby SARS-CoV-2 transmission in pregnancy possible but rare, says study

A new meta-analysis, released on the medRxiv* preprint server, suggests that, though possible, the virus is rarely transmitted to the newborn in real life. A scientific brief from the World Health Organization (WHO) in February 2021 describes three mechanisms by which the virus might be transmitted from the mother to the fetus or newborn.

7 Jul 2021

Study: Patients with two SARS-CoV-2 variants are less likely to be asymptomatic compared to control group

Although two SARS-CoV-2 variants are associated with higher transmission, patients with these variants show no evidence of higher viral loads in their upper respiratory tracts compared to the control group, a Johns Hopkins School of Medicine study found.

21 Jun 2021

Researchers in Canada conduct a comparative study of household secondary attack rates connected with SARS-CoV-2 variants of concern

Scientists are considering a third surge in COVID-19 incidence owing to the emergence of highly transmissible SARS-CoV-2 variants of concern (VOC). SARS-CoV-2 is the causal agent of the current COVID-19 pandemic. Some of these VOCs have been reported to have a rate of transmission much higher than the infectivity of the ancestral strain that had emerged in Wuhan, China, in 2019.

9 Jun 2021

Study supports the need for improving early TB diagnosis and care in Irish prisons

Investigators from Trinity College Dublin, the Irish Mycobacteria Reference Laboratory, St James's Hospital, and the Department of Public Health HSE East believe tuberculosis (TB) care in Irish Prisons should be supported, considering the findings of their study which is published today (Tuesday, 1st June, 2021) in the International Journal of Tuberculosis and Lung Disease.

1 Jun 2021

Researchers identify a novel SARS-CoV-2 variant (with the V1230L mutation) in West Bengal, India

Researchers analyzed 2,000 viral genomes of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) – the causative agent of coronavirus disease 2019 (COVID-19) – sequences obtained from India and found a new variant that could be more infectious and transmissible.

28 May 2021

Study shows how human bodies develop from a single cell

New insights into how our bodies come into being from a single cell have been generated by researchers at the Wellcome Sanger Institute, the Wellcome-MRC Cambridge Stem Cell Institute and the University of Cambridge.

21 May 2021

Study shows distinctive mutation in rapidly emerging SARS-CoV-2 B.1.1.7 sublineage

In a new study currently available on the medRxiv* preprint server, US researchers report the detection of a specific sub-lineage of B.1.1.7 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variant harboring a novel S:D178H mutation and elucidate its transmission and evolutionary patterns.

21 May 2021

SARS-CoV-2 B.1.1.420 and B.1.617.1 immune escape variants reported in France

Researchers discovered the first N440K variant and the new E484Q and L452R Indian variants isolated in France in a recent study. They presented the genetic mutations in the isolated genomes and the phylogenetic tree, including these strains among different SARS-CoV-2 clades. This work is posted on the bioRxiv preprint server.

18 May 2021

New $10.7 million project aims to study the genetic underpinnings of Alzheimer's disease

Despite decades of research and investment, the genetic underpinnings of Alzheimer's disease are still largely unknown, stymieing drug development and early diagnosis efforts.

5 May 2021

Researchers try to simplify gene nomenclature across various organisms

Constantina Theofanopoulou wanted to study oxytocin. Her graduate work had focused on how the hormone influences human speech development, and now she was preparing to use those findings to investigate how songbirds learn to sing. The problem was that birds do not have oxytocin. Or so she was told.

29 Apr 2021

New collaboration to study early detection of developmental differences in children

The University of Washington's School of Medicine Brotman Baty Institute for Precision Medicine is collaborating with Illumina, Inc. and GeneDx, Inc., a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company, to study early detection of developmental differences in children.

29 Apr 2021

UT Southwestern reports first cases of Brazilian variant of COVID-19 infection in North Texas

UT Southwestern Medical Center scientists have identified the first cases of the Brazilian variant of COVID-19 infection in North Texas using next-generation sequencing technologies along with PCR testing.

26 Apr 2021

Researchers explore cost-effective identification method for novel SARS-CoV-2 variants

In a new study, a rapid and cost-effective method of detecting known variants of concern has been developed utilizing capillary electrophoresis, allowing local facilities to screen for and track SARS-CoV-2 variants of concern and implement reactionary procedures.

21 Apr 2021

SARS-CoV-2 variants are widely spread across the Houston metropolitan area

In late 2020, several concerning SARS-CoV-2 variants emerged globally. They are believed to be more easily transmissible, and there is concern that some may reduce the effectiveness of antibody treatments and vaccines.

14 Apr 2021