Whole Genome Sequencing News and Research

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Exome sequencing unravels complex genetic diagnoses in growth disorders

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.

16 Feb 2024

New study finds 4’-fluorouridine effective against avian influenza in vitro and in vivo

A PLOS Pathogens study reveals 4’-fluorouridine effectively combats avian influenza in vitro and in animal models, showing promise as a treatment that overcomes resistance and reduces disease severity without significant adverse effects.

11 Feb 2024

Artificial tears linked to drug-resistant bacteria outbreak, CDC finds

CDC scientists trace a multistate outbreak of highly drug-resistant Pseudomonas aeruginosa to a specific brand of over-the-counter artificial tears, underscoring the need for stricter regulation of medical products.

8 Feb 2024

Immunocompromised patients show prolonged SARS-CoV-2 infection and unique mutations

study identifies risk factors for prolonged SARS-CoV-2 infection in immunocompromised patients, revealing that B-cell dysfunction, solid organ transplantation, and AIDS lead to longer infections and unique spike mutations.

31 Jan 2024

Mutation butterfly effect: Study reveals how single change triggers autism gene network

Researchers in the RIKEN Center for Brain Science (CBS) examined the genetics of autism spectrum disorder (ASD) by analyzing mutations in the genomes of individuals and their families.

27 Jan 2024

RT-PCR genotyping outperforms whole-genome sequencing in speedy and accurate COVID-19 variant tracking

A study in JAMA Network Open shows RT-PCR genotyping assays as a faster, cost-effective alternative to WGS for SARS-CoV-2 variant surveillance, offering high accuracy and scalability.

24 Jan 2024

UKHSA unveils groundbreaking Pathogen Genomics Strategy for pandemic preparedness

The UK Health Security Agency (UKHSA) has today published its Pathogen Genomics Strategy, laying out a 5 year plan for the organization's role in the wider delivery of pathogen genomics to prepare for and respond to infectious disease threats to public health.

24 Jan 2024

New study reveals effective strategies against drug resistance in hospital-acquired pneumonia treatment

A novel rabbit infection model to investigate meropenem's resistance development.

23 Jan 2024

Study assesses effectiveness of strategies to prevent SARS-CoV-2 transmission in healthcare settings

Researchers analyzed whether infection prevention measures during the COVID-19 pandemic were adequate in protecting healthcare workers.

22 Jan 2024

Genotyping technology speeds up Covid variant identification

Genotyping technology detects Covid variants more quickly and cheaply than ever before – according to research from the University of East Anglia and the UK Health Security Agency.

17 Jan 2024

Combining health data with whole genome sequence data in cancer patients can help doctors provide more tailored care

Researchers evaluated the impact of integrating whole-genome sequencing data with clinical outcomes across 13,880 tumors from 33 cancer types, assessing precision care potentials within the UK NHS through the 100,000 Genomes Cancer Programme.

16 Jan 2024

Pioneering Genomic Progress: An Interview with Rami Mehio, Illumina's Software and Informatics Expert

In this interview, Rami Mehio, head of software and informatics at Illumina, shares his experiences and contributions to major genomic projects like the UK Biobank's whole genome sequencing. He discusses the challenges and innovations in genomic data analysis, highlighting Illumina's role in advancing genetic research and precision medicine.

From Illumina, Inc. 15 Jan 2024

International research collaboration leads to breakthrough in antibiotic resistance testing using DNA sequencing

The accuracy of antibiotic resistance determination from Enterococcus faecium genomes for diagnostic purposes.

15 Jan 2024

Study shows how cancer care can be transformed from 'one size fits all' approach into precision healthcare

In the largest study of its kind, scientists today report how combining health data with whole genome sequence (WGS) data in patients with cancer can help doctors provide more tailored care for their patients.

10 Jan 2024

New algorithm proves to be a powerful tool for detection and identification of novel bacterial organisms

Researchers developed the NOVA algorithm to systematically analyze bacterial isolates unidentified using traditional methods such as matrix-assisted laser desorption ionization-time of flight mass spectrometry and partial 16S rRNA gene sequencing using whole genome sequencing.

10 Jan 2024

New model predicts individual myeloma risk and treatment response

A multicenter collaboration led by researchers at Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine has produced the first computational model for newly diagnosed multiple myeloma that predicts an individual's personalized prognosis based on their tumor genomics and treatments.

9 Jan 2024

Whole Genome Sequencing News and Research

Exome sequencing unravels complex genetic diagnoses in growth disorders

New study finds 4’-fluorouridine effective against avian influenza in vitro and in vivo

Artificial tears linked to drug-resistant bacteria outbreak, CDC finds

Immunocompromised patients show prolonged SARS-CoV-2 infection and unique mutations

Mutation butterfly effect: Study reveals how single change triggers autism gene network

RT-PCR genotyping outperforms whole-genome sequencing in speedy and accurate COVID-19 variant tracking

UKHSA unveils groundbreaking Pathogen Genomics Strategy for pandemic preparedness

New study reveals effective strategies against drug resistance in hospital-acquired pneumonia treatment

Study assesses effectiveness of strategies to prevent SARS-CoV-2 transmission in healthcare settings

Genotyping technology speeds up Covid variant identification

Combining health data with whole genome sequence data in cancer patients can help doctors provide more tailored care

Pioneering Genomic Progress: An Interview with Rami Mehio, Illumina's Software and Informatics Expert

International research collaboration leads to breakthrough in antibiotic resistance testing using DNA sequencing

Study shows how cancer care can be transformed from 'one size fits all' approach into precision healthcare

New algorithm proves to be a powerful tool for detection and identification of novel bacterial organisms

New model predicts individual myeloma risk and treatment response

Genomic analysis of uncultured bacteria from patients identifies more than thirty new species

Study uncovers unique genetic diversity in Australian Indigenous populations

Utilizing firefly liquid handling for laboratory developed tests

Organoid study opens new avenues in pulmonary neuroendocrine cancer therapy

The art of CRISPR: The power and promise of gene editing eBook

Advancing Intracellular Delivery with LumiPore®

How ELRIG Is Helping Mid-Career Scientists Navigate Leadership, Career Change and Redundancy

The role of UV-Vis in biopharma QC

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