Whole Genome Sequencing News and Research

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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

Study reveals new clues to sex differences in autism

It is well established that autism occurs much more frequently in boys than in girls, and that girls seem to have a greater resilience to developing the condition. It has been unclear, however, why that is.

19 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

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

The study, published in The Lancet, demonstrates that there is no evidence of a link between severe illness and death and lineage when comparing the B.1.1.7 lineage and other variants.

14 Apr 2021

Studies provide insights into characteristics and clinical effect of SARS-CoV-2 B.1.1.7 variant

Two new studies, published in The Lancet Infectious Diseases and The Lancet Public Health, found no evidence that people with the B.1.1.7. variant experience worse symptoms or a heightened risk of developing long COVID compared with those infected with a different COVID-19 strain.

13 Apr 2021

Researchers identify novel SARS-CoV-2 variant unregistered on genomic sequence databases

A team of scientists from the University of California Santa Cruz, USA, recently identified a novel variant (B.1.x) of SARS-CoV-2 that might be circulating in at least 20 US states and six countries globally.

7 Apr 2021

Genome analysis of more than 53,000 people offers valuable insights into dangerous diseases

A new analysis of the entire genetic makeup of more than 53,000 people offers a bonanza of valuable insights into heart, lung, blood and sleep disorders, paving the way for new and better ways to treat and prevent some of the most common causes of disability and death.

5 Apr 2021

First-of-its-kind study identifies 13 new Alzheimer’s disease genes

In the first study to use whole genome sequencing (WGS) to discover rare genomic variants associated with Alzheimer's disease (AD), researchers have identified 13 such variants (or mutations).

3 Apr 2021

Higher B.1.1.7 transmission in households than other SARS-CoV-2 variants

Contact tracing data from a new preprint study on the medRxiv* preprint server provides further evidence that the B.1.1.7 variant — first reported in the United Kingdom — has a high transmission rate. The research, led by Birgitte Freiseleben de Blasio from the Norwegian Institute of Public Health and the University of Oslo in Norway, estimates B.1.1.7 has a 60% greater transmission within households than other severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants of concern.

2 Apr 2021

Researchers develop novel test that screens for SARS-CoV-2 variants of concern

A team of scientists from the United States has recently developed a single-tube duplex molecular assay for rapid detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants containing E484K and N501Y spike mutations.

30 Mar 2021

Researchers report on novel SARS-CoV-2 Israeli strain with unique spike glycoprotein

Researchers from Israel describe a novel SARS-CoV-2 strain with a non-synonymous mutation in its spike glycoprotein, designated as P681H; nevertheless, its emergence has not been associated with increased infections rate, facilitated spread or vaccine evasion.

30 Mar 2021

Demographic and clinical comparison of the first and second COVID-19 waves in London, UK

In a paper recently uploaded to the preprint server medRxiv*, clinical and demographic data from across the UK is compared to viral genome sequence data, identifying trends amongst the population affected, and across SARS-CoV-2 strains.

26 Mar 2021

Study identifies NCOA3 as a novel therapeutic target for melanoma

For the first time, activation of nuclear receptor coactivator 3 (NCOA3) has been shown to promote the development of melanoma through regulation of ultraviolet radiation (UVR) sensitivity, cell cycle progression and circumvention of the DNA damage response.

25 Mar 2021

Study finds significant variation in biomarker test utilization and treatment for non–small-cell lung cancer

Biomarker testing surveys specific disease-associated molecules to predict treatment response and disease progression; however its use has complicated the diagnosis of non-small-cell lung cancer (NSCLC).

15 Mar 2021

Whole genome sequencing may guide blood cancer treatment

For certain blood cancers, such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), deciding whether patients need an aggressive treatment typically hinges on a set of lab tests to identify genetic changes.

11 Mar 2021

SARS-CoV-2 UK variant could soon be dominant in Switzerland

Researchers at the Swiss Institute of Bioinformatics estimate that the B.1.1.7 variant may be dominant in Switzerland by March.

10 Mar 2021

Rapid increase of UK SARS-CoV-2 variant found in sewage in England between October 2020 to January 2021

A new study confirms the utility of wastewater surveillance as an important new tool in this regard by showing the presence of the UK SARS-CoV-2 variant in wastewater samples from London early in November, with increasing frequency thereafter.

9 Mar 2021

Rare Disease Day: Illumina shines a spotlight on people living with rare diseases

With a mission of empowering the rare disease community, Illumina has today partnered with medical researchers and families to highlight the importance of genomic sequencing and to shine the spotlight on the 300 million people worldwide living with a rare disease.

8 Mar 2021

Multidrug-resistant S. aureus strains may be spreading between pigs, farmworkers in North Carolina

DNA sequencing of bacteria found in pigs and humans in rural eastern North Carolina, an area with concentrated industrial-scale pig-farming, suggests that multidrug-resistant Staphylococcus aureus strains are spreading between pigs, farmworkers, their families and community residents, and represents an emerging public health threat, according to a study led by researchers at the Johns Hopkins Bloomberg School of Public Health.

5 Mar 2021

Researchers assess SARS-CoV-2 surface contamination risks in hospital setting

Researchers analyzed the surface swabs for SARS-CoV-2 RNA and the infectivity in a hospital setting by both qRT-PCR and a viral culture assay. They also determined the suitability for sequence analysis and phylogenetically identifying the source of the virus.

1 Mar 2021