Genomic Sequencing News and Research

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Groundbreaking 'Gnocchi' map reveals hidden secrets of the human genome

Study presents a genome-wide map, "Gnocchi," constructed from 76,156 human genomes, revealing that non-coding regions rich in regulatory elements are crucial in understanding human traits and diseases.

7 Dec 2023

Lung-MAP: A beacon of hope for lung cancer patients

The unique public-private partnership that for almost a decade has undergirded the first National Cancer Institute (NCI)-sponsored precision medicine clinical trial in lung cancer can serve as a model for future clinical research that is more rapid, innovative, and inclusive.

1 Dec 2023

Study identifies how three novel genes cause neurodevelopmental disorders

An international study group led by researchers of Children's Hospital of Philadelphia (CHOP) have identified how three novel genes cause neurodevelopmental disorders.

28 Nov 2023

One in five patients on Nirmatrelvir–Ritonavir experience virologic rebound, new observational study reveals

The frequency of viral rebound (VR) among acute coronavirus disease 2019 patients.

16 Nov 2023

Precision oncology therapies account for nearly half of new cancer drug approvals since 1998

Of the 198 new oncology drugs approved by the U.S. Food and Drug Administration (FDA) between 1998 and 2022, approximately 43% were precision oncology therapies, the use of which is guided by biomarker testing.

18 Oct 2023

Public health interventions prevented most SARS-CoV-2 introductions from leading to outbreaks

SARS-CoV-2, the causative agent of COVID-19, began impacting the U.S. in March 2020 with many schools and universities shifting to remote education by early April 2020 in response to the public health emergency.

17 Oct 2023

Experts call for action as male infertility increases worldwide

Infertility now affects one in six couples of reproductive age according to the World Health Organisation. About half the time, it originates from men.

13 Oct 2023

New AI tool could aid in the diagnosis of enigmatic rare diseases

An innovative AI-based tool leverages varied symptom descriptions, along with evidence from the scientific literature and genomic datasets, to pinpoint disease-associated gene variants.

10 Oct 2023

UKHSA donates advanced genomic surveillance equipment to CARPHA

This is a significant stride towards strengthening global genomic surveillance to track new variants and pathogens of pandemic and epidemic potential.

27 Sep 2023

Newborn screening for neurodevelopmental disorders may cause more harm than good

Expanding newborn screening (NBS) to include identifying genes associated with an increased risk for neurodevelopmental disorders (NDD) would cause more harm than good, according to an article published in Pediatrics.

20 Sep 2023

Adaptive platform trial shows promise for finding new glioblastoma therapies

An innovative phase 2 clinical trial led by Dana-Farber Cancer Institute in collaboration with 10 major brain tumor centers around the country and designed to find new potential treatments for glioblastoma has reported initial results in the Journal of Clinical Oncology. While none of the three therapeutics tested so far improved overall survival of patients, this adaptive platform trial, the first of its kind in neuro-oncology, has the potential to rapidly and efficiently identify therapies that benefit patients.

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

Genetic sequencing shows promise as first-tier newborn screening test

Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders.

14 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

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

Outbreak of piercing infections in Australia traced to contaminated aftercare solution

Researchers in New South Wales, Australia, used genomic sequencing to trace an outbreak of Pseudomonas aeruginosa infections following ear piercings to a specific batch of aftercare solution. The study led to a recall of the product and improvements in manufacturing standards, successfully reducing the number of infections.

4 Sep 2023

Is the rapid evolution of SARS-CoV-2 in white-tailed deer complicating our fight against the pandemic?

New study reveals rapid evolution of SARS-CoV-2 in Ohio's white-tailed deer population, with a 25% seroprevalence rate. The findings suggest a significant risk of animal-to-human transmission and indicate the virus evolves faster in deer than in humans.

31 Aug 2023