Whole Genome Sequencing News and Research

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CRISPR gene editing study provides insights into how autism gene affects brain development

Researchers have used CRISPR gene editing, stem cells and human neurons to study the impact of a gene that is commonly mutated in autism.

5 Oct 2023

Unlocking the code: BigRNA's deep learning model predicts RNA behavior

Researchers have developed BigRNA, a groundbreaking deep learning model capable of predicting RNA behavior, including tissue-specific expression and splicing, directly from genomic DNA sequences. The model excels in identifying pathogenic variants and could be a game-changer in the development of personalized RNA-based therapies for treating genetic diseases.

28 Sep 2023

Researchers crack the genetic code of rare form of kidney cancer

The genetic code of a rare form of kidney cancer, called reninoma, has been studied for the first time. In the new paper, published today (25th September) in Nature Communications, researchers at the Wellcome Sanger Institute, Great Ormond Street Hospital and The Royal Free Hospital also revealed a new drug target that could serve as an alternative treatment if surgery is not recommended.

25 Sep 2023

Cracking syphilis code: Genome sequencing reveals transmission secrets

Using whole genome sequencing, a new Lancet Microbe study sheds light on syphilis transmission dynamics in England. The research identifies distinct transmission clusters, revealing the effectiveness of genomic data in tracking and intervening in syphilis outbreaks.

20 Sep 2023

Analyzing longitudinal genomic surveillance of carriage intensive care unit

Hospital staff spend a significant amount of time working to protect patients from acquiring infections while they are being cared for in the hospital.

19 Sep 2023

MGI Partners with National Cancer Centre Singapore to Undergo Comprehensive Genomic Profiling of Asian-Prevalent Cancers

MGI Tech Singapore Pte, Ltd. ("MGI"), a company committed to building core tools and technology to lead life science, recently entered a research partnership with National Cancer Centre Singapore ("NCCS") to facilitate comprehensive, multi-dimensional genomic profiling of Asian-prevalent cancers using MGI's core DNBSEQ™ technology.

From MGI 18 Sep 2023

BU researchers receive NIH grant to identify genetic factors for Alzheimer's disease

The National Institutes of Health/National Institute on Aging recently awarded a $13.7 million grant to a project led by Boston University Chobanian & Avedisian School of Medicine principal investigators Lindsay Farrer, PhD, chief of biomedical genetics and distinguished professor of genetics, and Richard Sherva, PhD, assistant professor of medicine in biomedical genetics, for research using whole genome sequencing and other approaches to identify genetic factors for Alzheimer disease (AD) in Jews currently living in Israel who trace their ancestors to southern Spain and locations in the Middle East and North Africa (MENA) and Arab citizens of Israel.

15 Sep 2023

JAX offers a fully validated, clinical whole genome sequencing test

Until quite recently, it was extremely difficult to detect the variants underlying many genetic disorders. In the absence of a defined cause, clinicians have little to guide treatment for those left without a genetic diagnosis, forcing patients and families to embark on a diagnostic odyssey with no guarantee of finding answers.

14 Sep 2023

NIH awards $3.2 million to study how unique DNA circles drive deadly pediatric brain tumors

Lukas Chavez, Ph.D., has received $3.2 million from the National Institutes of Health to study how unique DNA circles found in cancer cells drive deadly pediatric brain tumors.

14 Sep 2023

New Omicron subvariant BA.2.86: A master of immune escape but not taking over yet

Researchers have isolated a new SARS-CoV-2 Omicron subvariant, BA.2.86, revealing its ability to escape neutralizing antibodies five-fold greater than its ancestor strain. Despite its enhanced immune evasion capabilities, BA.2.86 has not shown a significant difference in spread compared to other current variants.

13 Sep 2023

How did COVID-19 pandemic restrictions impact invasive meningococcal disease trends?

The impact of COVID-19 pandemic restrictions on the incidence and strain distribution of meningococcus.

11 Sep 2023

Latest updates on SARS-CoV-2 variants identified in the UK

The UK Health Security Agency (UKHSA) has published SARS-CoV-2 variant surveillance and assessment technical briefing 53. It contains the latest epidemiological and genomic analysis of the emergent BA.2.86 variant.

8 Sep 2023

SARS-CoV-2 Eris variant spreads faster and dodges immunity

Study investigates the characteristics of the EG.5.1 "Eris" variant of SARS-CoV-2, finding it more transmissible among hamsters and slightly better at evading immunity compared to the XBB.1.5 variant. The results suggest that these properties could be driving the variant's increasing prevalence in human populations.

5 Sep 2023

Study reports highly pathogenic avian influenza A infection in pet dogs and cat on a rural poultry farm in Italy

Researchers presented serological evidence of highly pathogenic avian influenza (HPAI) H5N1 virus infection in a pet cat and five dogs on a rural poultry farm in Italy.

4 Sep 2023

Disruption of FOXA2 expression in congenital hyperinsulinism: The role of chromosome 20p11.2 deletions

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24 Aug 2023

Researchers develop new method to find mutations in pediatric brain tumors

Researchers at Uppsala university have developed a new method to find mutations in brain tumors in children.

7 Aug 2023

GEMINI test shows promise for early detection of lung cancer

Novel blood testing technology being developed by researchers at the Johns Hopkins Kimmel Cancer Center that combines genome-wide sequencing of single molecules of DNA shed from tumors and machine learning may allow earlier detection of lung and other cancers.

4 Aug 2023

How MGI Boosts Agrigenomics and Food Sustainability with Sequencing Technology: An Australian Case Study

In the wake of the recent UN Food Systems +2 Stocktaking Moment in Rome, the spotlight on global food security has never been more critical. Addressing the challenges of a burgeoning population and changing climate requires innovative solutions, and one area showing remarkable promise is agrigenomics.

From MGI 27 Jul 2023

How do De novo sequencing, QTL mapping, WGS, and lcWGS empower breakthroughs in agrigenomics

Sequencing technology is playing an increasingly important role in agriculture, including crops, livestock and poultry, aquatic organisms, and more.