Whole Genome Sequencing News and Research

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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

New SARS-CoV-2 variants emerge among children in United States, suggests study

As the coronavirus disease 2019 (COVID-19) pandemic approaches its eighteenth month, new variants of concern (VOCs) of the causative pathogen – severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) – continue to emerge all over the world. A new study explores the emergence of such VOCs among young children, below 12 years of age, and the potential consequences of this phenomenon.

26 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 spike mutation can independently predict viral evolution

A team of scientists from Portugal has recently estimated the rate of mutation in two circulating variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) using experimental evolution methods. Their findings reveal that in a condition with no immune surveillance, SARS-CoV-2 can potentially undergo evolution during the first stages of infection. The study is currently available on the bioRxiv* preprint server.

21 May 2021

Tokyo sees rapid rise of SARS-CoV-2 R.1 lineage

A new research paper posted to the preprint server medRxiv* reports the rise of a new lineage in Tokyo, Japan, bearing a combination of two biologically important mutations.

20 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

Lab reports 1st instance of SARS-CoV-2 variants affecting antigen test performance

Researchers from the US recently determined the sensitivity of the Quidel Sofia SARS Antigen FIA test (Sofia 2). They found a high viral load specimen that tested negative repeatedly while using this antigen test. The study is published on the preprint server, medRxiv.

10 May 2021

Korea's first large-scale project reaches milestone of sequencing 10,000 whole genomes

On April 26, UNIST and Ulsan City officially announced that their ambitious 10,000 Genome Project has finally reached the milestone of sequencing 10,000 whole genomes.

10 May 2021

Researchers show SARS-CoV-2 genes can be integrated into the human genome

Researchers in the United States have shown that genes from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) – the causative agent of coronavirus disease 2019 (COVID-19) – can be integrated into the genome of infected human cells.

10 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 identify novel SARS-CoV-2 variant with mutations in membrane protein-encoding gene

A recent study published in the Journal Emerging Microbes and Infections has highlighted the emergence of a novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variant with mutations in the membrane protein-encoding gene. Two potential mutations, M:I82T and M:V70L, have been identified within the transmembrane helices, which are expected to improve viral fitness by modulating glucose uptake during replication.

3 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

Whole Genome Sequencing News and Research

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

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

New SARS-CoV-2 variants emerge among children in United States, suggests study

Study shows how human bodies develop from a single cell

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

SARS-CoV-2 spike mutation can independently predict viral evolution

Tokyo sees rapid rise of SARS-CoV-2 R.1 lineage

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

Lab reports 1st instance of SARS-CoV-2 variants affecting antigen test performance

Korea's first large-scale project reaches milestone of sequencing 10,000 whole genomes

Researchers show SARS-CoV-2 genes can be integrated into the human genome

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

Researchers identify novel SARS-CoV-2 variant with mutations in membrane protein-encoding gene

Researchers try to simplify gene nomenclature across various organisms

New collaboration to study early detection of developmental differences in children

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

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

Study reveals new clues to sex differences in autism

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

No evidence B.1.1.7. variant worsens symptoms or increases risk of long COVID

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