Whole Genome Sequencing News and Research

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Early genome catastrophes can lead to development of lung cancer in non-smokers

Catastrophic rearrangements in the genome occurring as early as childhood and adolescence can lead to the development of lung cancer in later years in non-smokers.

31 May 2019

Researchers study how Mycobacterium tuberculosis can develop resistance to anti-TB drugs

In July last year, South Africa became the first country to roll out a new anti-tuberculosis drug in its national programme.

31 May 2019

New recommendations on standards, ways to communicate quality of probiotics to end-users

Probiotics are increasingly being researched and marketed as functional ingredients to enhance health. As the market for these products grows, consumers face difficulty in distinguishing between high- and low-quality products.

13 May 2019

IDT announces significant NGS portfolio expansion

Demonstrating its advocacy for genomics research, Integrated DNA Technologies announces a significant expansion to its NGS portfolio.

From Integrated DNA Technologies 10 May 2019

Half of all women with PCOS share a rare gene variant

Scientists have discovered a common genetic variant in half of all women with PCOS which causes high levels of testosterone.

1 May 2019

New study aims to determine underlying etiology of seizures and reduce morbidities in children

A new study aims to determine the underlying etiology of seizures and help to target therapy, improve control of seizures, and potentially reduce morbidities in children.

27 Apr 2019

DNA rearrangement may predict poor outcomes in multiple myeloma

A certain type of DNA marker predicts poor outcomes in multiple myeloma, researchers at Winship Cancer Institute, Emory University have found.

24 Apr 2019

Researchers identify cause of inherited metabolic disorder

A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA mutation as the cause of an inherited metabolic disorder.

16 Apr 2019

New catalog of DNA mutation 'fingerprints' could help doctors pinpoint cancer culprits

Scientists in Cambridge and London have developed a catalog of DNA mutation 'fingerprints' that could help doctors pinpoint the environmental culprit responsible for a patient's tumor - including showing some of the fingerprints left in lung tumors by specific chemicals found in tobacco smoke.

16 Apr 2019

Spotlight on ECCMID 2019: Detecting Disease & Managing Infections

This article covers some of the highlights of ECCMID 2019, with insights into some of the companies and products being featured at the event.

From ESCMID 15 Apr 2019

New Research Unit funded by DFG aims to improve diagnosis of genetic diseases

How can we improve the identification and prompt diagnosis of genetic diseases? A new Research Unit at Charité - Universitätsmedizin Berlin will set out to identify and reliably interpret important non-coding sections of our genomes in the hope of finding the diagnosis for unsolved diseases.

5 Apr 2019

Myriad Women’s Health to present two new studies highlighting performance of its prenatal tests

Myriad Genetics, Inc., a global leader in personalized medicine, today announced that its Myriad Women’s Health business unit will present results from two important studies at the 2019 American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting that highlight the performance of its prenatal tests.

3 Apr 2019

Research identifies genomic risk factor associated with stroke in childhood cancer survivors

Research at St. Jude Children's Research Hospital has identified a genomic risk factor associated with stroke in childhood cancer survivors. The findings were announced today at a press conference as part of the American Association for Cancer Research annual meeting in Atlanta.

2 Apr 2019

New clinical genomic testing helps identify mutations that drive childhood melanoma

Comprehensive clinical genomic testing of an adolescent patient, including whole genome sequencing, helped researchers identify mutations in a single gene that drive the most common childhood melanoma.

5 Mar 2019

Johns Hopkins researchers find genetic cause of olfactory neuroblastoma

By sequencing the entire genomes of tumor cells from six people with a rare cancer of the nose and sinus cavity, Johns Hopkins researchers report they unexpectedly found the same genetic change¾one in a gene involved in muscle formation¾in five of the tumors.

28 Feb 2019

Scientists identify cause of devastating pediatric brain disorder

An international effort led by physician-scientists at Rady Children's Institute for Genomic Medicine, in collaboration with a team at the Montreal Children's Hospital of the McGill University Health Centre, has identified the cause of a devastating pediatric brain disorder paving the way for the first step in developing potential therapies for this rare neurodegenerative condition.

25 Feb 2019

A comprehensive, multinational review of peppers around the world

A comprehensive and multinational review of peppers/chilis (Capsicum species) with academic and scientific input from points across the globe, such as Argentina, Brazil, Taiwan, Mexico, Italy, Hungary, Austria, and the United States sets out to explore various aspects of interest concerning this horticulturally important crop.

22 Feb 2019

Whole-genome sequencing and sharing real-time data could limit spread of foodborne bacteria

Employing advanced genetic-tracing techniques and sharing the data produced in real time could limit the spread of bacteria -- Bacillus cereus -- which cause foodborne illness, according to researchers who implemented whole-genome sequencing of a pathogen-outbreak investigation.

14 Feb 2019

Researchers map extremely complex chromosome aberrations using DNA puzzle pieces

Using puzzle pieces from four different DNA analyses, researchers at Karolinska Institutet in Sweden have been able to map three extremely complex chromosome aberrations.

12 Feb 2019

ALS and Tow Foundation announce their continuing support to New York Genome Center

The ALS Association and The Tow Foundation are pleased to announce their continuing support of the New York Genome Center's Center for Genomics of Neurodegenerative Disease, in recognition of the substantial genomic research being carried out by NYGC scientists.

6 Feb 2019