Whole Genome Sequencing News and Research

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Interactive cloud-based data portal provides access to treasure trove of pediatric solid tumor data

An innovative, interactive cloud-based data portal debuted this week that lets academic researchers mine the world's largest and most comprehensive collection of scientific resources for studying pediatric solid tumors and their related biology.

26 Jun 2020

Whole genome sequencing can improve diagnosis and treatment of patients with rare diseases

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

24 Jun 2020

Inherited mutation increases cancer risk among people of Brazilian descent

Scientists at St. Jude Children's Research Hospital alongside global partners are studying a common TP53-R337H variant found among people of Brazilian descent.

24 Jun 2020

Improving cancer therapies by exploiting drug resistance in cancer

News-Medical talks to Professor David Thomas about his recent research identifying the mechanisms behind cancer cells developing resistance to drugs.

23 Jun 2020

Effect of human genes on severity and infectivity of SARS-CoV-2

Now, a new paper published on the preprint server medRxiv* reports the results of an analysis of the association between the genetic variants in the patients and the clinical progression of the disease. The study included 332 patients hospitalized with COVID-19 in a single-center, with widely varying laboratory and clinical features. There were 25, 12, and 17 patients with asymptomatic, mild, and critical disease.

14 Jun 2020

New technique to identify genes implicated in the development of malignant brain tumor

Researchers at Uppsala University have developed a method for identifying functional mutations and their effect on genes relevant to the development of glioblastoma - a malignant brain tumor with a very poor prognosis. The study is published in Genome Biology.

9 Jun 2020

SARS-CoV-2 genome variants in India

A new study published online on the preprint server bioRxiv in June 2020 surveys the genetic diversity of SARS-CoV-2 strains in India.

7 Jun 2020

Study investigates combined effects of cancer therapy and inherited genetics

Scientists at St. Jude Children's Research Hospital are studying the combined effect of cancer treatments and inherited mutations in DNA-repair genes.

5 Jun 2020

DNA sequencing and analysis of drug-resistant bacteria set up in the Philippines

Antibiotic resistance surveillance in the Philippines has moved into the genomic era, enabling better tracking of dangerous bacteria. Researchers at the Centre for Genomic Pathogen Surveillance (CGPS housed at the Wellcome Sanger Institute and The Big Data Institute, University of Oxford), and the Philippine Research Institute for Tropical Medicine, set up local DNA sequencing and analysis of drug resistant bacteria in the Philippines.

5 Jun 2020

Methods to move precision medicine from evaluation into practice and policy

Value in Health, the official journal of ISPOR - the professional society for health economics and outcomes research, announced today the publication of a series of articles focused on methods for moving from the evaluation of precision medicine into practice and policy.

26 May 2020

SARS-CoV-2 in wastewater and rivers

A new study published on the preprint server medRxiv in May 2020 shows that while the virus causing COVID-19 may be present in wastewater and rivers, the biological agent is typically devoid of vitality and unable to cause active infection. This should provide some relief to public health authorities in their quest to contain the virus.

6 May 2020

DNA damage and inaccurate repair mechanisms jointly cause mutational signatures

Researchers at EMBL's European Bioinformatics Institute, the University of Dundee and the Wellcome Sanger Institute analysed over 2700 genomes from C. elegans worms in order to better understand the causes of mutations.

2 May 2020

Boston Children's Hospital launches two-pronged study of COVID-19 in children

Boston Children's Hospital has launched a two-pronged study of COVID-19 disease among children and youth up to age 25 across the country, with $2.1 million in funding from the Centers for Disease Control and Prevention.

28 Apr 2020

Many cells in human uterus carry 'cancer-driving' mutations that arise early in life

Many cells in the inner lining of the uterus carry 'cancer-driving' mutations that frequently arise early in life, report scientists from the Wellcome Sanger Institute, the University of Cambridge and their collaborators.

23 Apr 2020

Pets have a low risk of transmitting multi-drug resistant bugs to owners, study finds

Zoonoses are diseases that are transmitted from animals to humans. About 75 percent of emerging infectious diseases are zoonoses, just like the coronavirus disease (COVID-19) that’s caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Domesticated animals such as pets can carry parasites and other pathogens to people. However, a new study suggests that pets are not a significant source of transmission to humans.

21 Apr 2020

Whole Genome Sequencing News and Research

Interactive cloud-based data portal provides access to treasure trove of pediatric solid tumor data

Whole genome sequencing can improve diagnosis and treatment of patients with rare diseases

Inherited mutation increases cancer risk among people of Brazilian descent

Improving cancer therapies by exploiting drug resistance in cancer

Effect of human genes on severity and infectivity of SARS-CoV-2

New technique to identify genes implicated in the development of malignant brain tumor

SARS-CoV-2 genome variants in India

Study investigates combined effects of cancer therapy and inherited genetics

DNA sequencing and analysis of drug-resistant bacteria set up in the Philippines

Methods to move precision medicine from evaluation into practice and policy

SARS-CoV-2 in wastewater and rivers

DNA damage and inaccurate repair mechanisms jointly cause mutational signatures

Boston Children's Hospital launches two-pronged study of COVID-19 in children

Many cells in human uterus carry 'cancer-driving' mutations that arise early in life

Pets have a low risk of transmitting multi-drug resistant bugs to owners, study finds

Age-related DNA modifications linked with susceptibility to eye disease

NEI researchers link age-related DNA modifications to susceptibility to eye disease

Rare structural genetic variants could play a role in schizophrenia

Researchers develop new kind of CRISPR screen technology to target RNA

Pediatric Infectious Disease Journal review: COVID-19 appears less severe in children

Sequencing & Genomics: Elevating Science and Healthcare 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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