Whole Genome Sequencing News and Research

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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

Genetic characteristics of possible new Alphacoronavirus species found in Bats

A recent study identifies a novel Alphacoronavirus isolated from bats, in Korea, in 2020.

13 Oct 2021

Novel vaccine demonstrates high efficacy for prevention of COVID-19

The clinical trial studied the efficacy of Novavax’s COVID-19 vaccine, NVX-CoV2373, and found it highly effective in preventing mild, moderate, and severe COVID-19 after full vaccination.

12 Oct 2021

Accumulation of SARS-CoV-2 mutations reduces sensitivity to neutralizing antibodies

In a new study, researchers discovered that SARS-CoV-2 mutations accumulate, especially in immunocompromised patients.

10 Oct 2021

New study underscores the importance of improving COVID-19 vaccination rates worldwide

Two doses of Pfizer-BioNTech (BNT162b2) are 90% effective against COVID-19 hospitalizations for all variants, including delta, for at least six months, confirms a new study from Kaiser Permanente and Pfizer published in The Lancet.

5 Oct 2021

Moderna's COVID-19 vaccine proves effective against multiple SARS-CoV-2 variants, including delta

Researchers in the United States have demonstrated the real-world effectiveness of Moderna’s mRNA-1273 vaccine at protecting against infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and preventing hospitalization due to coronavirus disease 2019 (COVID-19).

4 Oct 2021

Scientists identify potential treatment for previously unknown condition affecting children

Researchers from the Agency for Science, Technology and Research's (A*STAR) Genome Institute of Singapore (GIS), and Rady Children's Institute for Genomic Medicine identified a previously unknown condition affecting children, which they discovered could be prevented by administering a drug during pregnancy.

2 Oct 2021

Researchers find potential cure for a previously unknown childhood genetic condition

Describing a previously unknown genetic condition that affects children, researchers at University of California San Diego School of Medicine and Rady Children's Institute for Genomic Medicine say they also found a potential method to prevent the gene mutation by administering a drug during pregnancy.

29 Sep 2021

Characterization of SARS-CoV-2 infections diagnosed after mRNA BNT162b2 vaccination

A team from the National Institute for Infectious Diseases “L. Spallanzani” (INMI) has recently reported their study on 94 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections (47.9% symptomatic, 52.1% asymptomatic) that occurred after the first or second vaccine dose against SARS-CoV-2 in the Lazio region (Central Italy).

27 Sep 2021

A variant analysis approach for SARS-CoV-2 in wastewater samples

A recent study proposes a simple and specific method for the enhanced detection of the SARS-CoV-2 VOCs in wastewater samples.

19 Sep 2021

Researchers report on under-sequenced region of S gene of the SARS-CoV2 Delta variant

In a recent study, Swiss researchers use improved techniques to understand the biological significance behind the Delta variant.

19 Sep 2021

Study looks at drug resistance in BRAF-mutated gliomas

Looking to understand why some brain tumors with a specific mutation can start to reject drugs commonly used to treat them, CU Cancer Center member Jean Mulcahy Levy, MD, led researchers from institutions around the country - including several from the University of Colorado School of Medicine - to study samples of brain tumors before and after being treated with the drug.

16 Sep 2021

Study reveals role of globalization and zoonosis in the emergence and spread of SARS-CoV-2 variants

A recent study aimed to use their own classification of different SARS-CoV-2 lineages that would help monitor their genetic features and geographical origins.

14 Sep 2021

Dynamics of healthcare-associated SARS-CoV-2 infections revealed with whole genome sequencing

In a recent paper, the researchers study the dynamics of SARS-CoV-2 infections on a geriatric hospital ward by whole genome sequencing.

13 Sep 2021

Lessons from COVID-19 response during first three waves in New South Wales

Scientists from Australia have recently analyzed the public health measures adopted by the authorities during the three waves of coronavirus disease 2019 (COVID-19) pandemic in New South Wales, Australia.

12 Sep 2021

New insights could help unlock the mystery of how lung cancer arises in never smokers

A genomic analysis of lung cancer in people with no history of smoking has found that a majority of these tumors arise from the accumulation of mutations caused by natural processes in the body.

6 Sep 2021

Patients who contract SARS-CoV-2 Delta variant more likely to be hospitalized than those with Alpha

Recently, researchers found the risk of being hospitalized was two times higher for people with the Delta variant as compared to those with the Alpha variant.

6 Sep 2021

Increased evolutionary rates seen in SARS-CoV-2 variants of concern

An Australian study conducted at the University of Melbourne describes that the emergence of more deadly variants of concern (VOCs) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is associated with an induction in episodic evolutionary rate. The study is currently available on the medRxiv* preprint server.

2 Sep 2021

Studies outlines novel strategies for detecting cancer and minimal residual disease

The latest special issue of PLOS Medicine features five studies outlining novel strategies for detecting cancer and for identifying minimal residual disease - when a small number of tumor cells survive treatment, potentially leading to recurrence of cancer.

1 Sep 2021