Whole Genome Sequencing News and Research

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New computational method helps to identify tumor cell mutations with greater accuracy

New computational method helps to identify tumor cell mutations with greater accuracy

A new computational method developed by researchers at the New York Genome Center allows scientists to identify rare gene mutations in cancer cells with greater accuracy and sensitivity than currently available approaches.

22 Mar 2018

Genomics England announces appointment of global genomics pioneer as first CEO

Genomics England announces appointment of global genomics pioneer as first CEO

Genomics England announces the appointment of its first Chief Executive Officer (CEO) today. Global genomics pioneer Professor John Mattick will join Genomics England in June. He will lead the organization as work done in the 100,000 Genomes Project provides the foundation for the systems NHS England is mobilizing in its ground breaking Genomic Medicine Service.

From Genomics England 20 Mar 2018

Groundbreaking 100,000 Genomes Project achieves important milestone to transform NHS care

Groundbreaking 100,000 Genomes Project achieves important milestone to transform NHS care

The Department of Health and Social Care, NHS England and Genomics England today announced reaching the 50,000 whole human genome sequences landmark within the 100,000 Genomes Project.

From Genomics England 20 Mar 2018

Genomics England announces new partnership to improve efficiency of next-generation sequencing analysis

Genomics England announces new partnership to improve efficiency of next-generation sequencing analysis

Today (8 January 2018) at the annual J.P. Morgan Healthcare Conference, Edico Genome and Genomics England announced a new partnership to strengthen the accuracy and consistency of next-generation sequencing data analysis in Genomics England’s Rare Disease Pilot.

From Genomics England 20 Mar 2018

Royal College of Pathologists‘ bulletin provides summary of Tissue Handling Workshop

Royal College of Pathologists‘ bulletin provides summary of Tissue Handling Workshop

A recent article in the Royal College of Pathologists‘ bulletin provides a summary of our recent Tissue Handling Workshop.

From Genomics England 20 Mar 2018

‘Fast track’ project shows promising results in cancer whole genome analyses

‘Fast track’ project shows promising results in cancer whole genome analyses

One key aim of the 100,000 Genomes Project is to improve cancer care for NHS patients. Whole genome sequencing in cancer can enable clinicians to choose better treatments and improve outcomes for patients through personalized medicine.

From Genomics England 20 Mar 2018

Scotland study aims to offer precise diagnoses for people with rare genetic diseases

Scotland study aims to offer precise diagnoses for people with rare genetic diseases

People in Scotland with rare genetic diseases are set to benefit from a DNA study that seeks to improve their diagnoses and treatments.

From Genomics England 20 Mar 2018

Whole Genome Sequencing used as diagnostic solution for TB

Whole Genome Sequencing used as diagnostic solution for TB

Public Health England has announced that Whole Genome Sequencing (WGS) is now being used to identify different strains of tuberculosis (TB).

From Genomics England 20 Mar 2018

Researchers develop way to sequence entire fetal genome by modifying prenatal testing method

Researchers develop way to sequence entire fetal genome by modifying prenatal testing method

For the first time, researchers have developed a way to sequence the entire genome of a fetus by modifying the prenatal testing method known as amniocentesis.

16 Mar 2018

Streamlined workflow could pave way for simple blood test to study cancer heterogeneity in liquid biopsy

Streamlined workflow could pave way for simple blood test to study cancer heterogeneity in liquid biopsy

Scientists reported the development of a robust and streamlined procedure for whole-genome copy number profiling of circulating tumor cells from a simple blood test.

13 Mar 2018

Oracle Health Sciences study explores status of precision medicine initiatives and challenges

Oracle Health Sciences study explores status of precision medicine initiatives and challenges

Oracle Health Sciences today announced the results of a new study that explores the current and planned status of precision medicine initiatives, associated challenges and the future impact of this discipline on life sciences and healthcare communities.

7 Mar 2018

Discovery may result in new medication to build stronger muscles in old age

Discovery may result in new medication to build stronger muscles in old age

As we grow older, our muscular function declines. A new study by researchers at Karolinska Institutet in Sweden shows how an unexpectedly high number of mutations in the stem cells of muscles impair cell regeneration.

23 Feb 2018

Scientists uncover genetic cause behind typhoid's antibiotic resistance

Scientists uncover genetic cause behind typhoid's antibiotic resistance

The genetic cause behind a strain of typhoid's resistance to five classes of antibiotics has been uncovered by scientists at the Wellcome Sanger Institute and their collaborators at Public Health England and Aga Khan University, Pakistan.

20 Feb 2018

Liquid biopsies could be used as new predictive marker for metastatic TNBC

Liquid biopsies could be used as new predictive marker for metastatic TNBC

A clinically relevant "liquid biopsy" test can be used to profile cancer genomes from blood and predict survival outcomes for patients with metastatic triple negative breast cancer, according to new research published by a multi-institutional team of researchers with The Ohio State University Comprehensive Cancer Center -- Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, the Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard.

19 Feb 2018

New FluChip-8G technology could aid in pandemic preparedness

New FluChip-8G technology could aid in pandemic preparedness

InDevR Inc., a Boulder-based analytical technology and life science company, today announced plans to launch a Research Use Only version of their FluChip-8G technology to aid in pandemic preparedness.

6 Feb 2018

Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Greenwood Genetic Center researchers in collaboration with scientists from Canada have identified unique epigenetic signatures for nine neurodevelopmental disorders lending to a better method of diagnosis for disorders with much clinical overlap.

23 Jan 2018

Research provides insights into mechanisms governing healthy longevity

Research provides insights into mechanisms governing healthy longevity

Keio University Global Research Institute, Tokyo publishes the January 2018 issue of KGRI Research Frontiers that includes researcher video profiles of Keio University researchers and research highlights from high impact publications including 'Regenerative medicine needs collaboration in and out of science in order to face current and future challenges; ‘Does eating fish protect you from depression?’; ‘Insights into the molecular mechanisms leading to kidney dysfunction in diabetic patients’; and ‘Ageing to 100 and beyond: Insights from demographic, phenotypic and genetic studies.

12 Jan 2018

Mutational patterns could identify breast cancer patients most likely to respond to platinum-based chemotherapy

Mutational patterns could identify breast cancer patients most likely to respond to platinum-based chemotherapy

The presence in advanced breast cancer of mutational signatures characteristic of homologous recombination deficiency (HRD) was associated with improved clinical outcomes to treatment with platinum-based chemotherapy.

19 Dec 2017

Researchers examine human mutations' impact on therapeutic effect of medicine

Researchers examine human mutations' impact on therapeutic effect of medicine

Every person has a unique DNA sequence in their genome. Now researchers from the University of Copenhagen and the MRC Laboratory of Molecular Biology in Cambridge have tried to quantify what these differences in the genome mean in the context of the genes targeted by drugs.

15 Dec 2017

Fusobacterium may play role in colon cancer growth, study finds

Fusobacterium may play role in colon cancer growth, study finds

Like nomads who carry tokens of home on their travels, colorectal cancer cells that spread to other parts of the body appear to bring several of the species of bacteria that were their companions in the colon, Dana-Farber Cancer Institute scientists report in a new study in the journal Science.

7 Dec 2017

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