Next generation sequencing NGS News and Research

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Genetic variant encoded in NCF1 linked to increased risk for autoimmune diseases, study shows

Investigators at the Medical University of South Carolina report pre-clinical research showing that a genetic variant encoded in neutrophil cystolic factor 1 (NCF1) is associated with increased risk for autoimmune diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis, and Sjögren's syndrome, in the January 2017 issue of Nature Genetics.

8 Feb 2017

Next-generation sequencing assay shows accuracy, sensitivity in detecting genetic mutations in tumors

One of the most promising areas of cancer research is personalized therapy using precision medicine. The National Cancer Institute's NCI-MATCH is a large, ongoing clinical trial that matches tumors to therapies based on the tumor's genetic characteristics.

7 Feb 2017

Researchers evaluate biological effects of exposure to cigarette smoke versus e-cigarette aerosols

Researchers reported changes in the expression levels of 123 genes when reconstituted lung tissue was exposed to cigarette smoke, compared to only two genes that could be confirmed following exposure to e-cigarette aerosols.

6 Feb 2017

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

A DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk women has moved a step closer to use in the general pregnancy population.

From Natera 3 Feb 2017

Sapientia genome analysis software by Congenica could cut costs and save lives

Whole genome analysis (WGA) enables rapid diagnosis of rare disease, ensuring that an appropriate course of management and treatment can be administered, possibly within days for acute neonatal cases, cutting the cost of intensive care and potentially saving lives. Rapid diagnosis is one of the many benefits of using the Sapientia™ genome analysis and interpretation platform that Dr Nick Lench, Chief Operating Officer of Congenica, will be discussing at Precision Medicine World Conference (PMWC) 2017 on January 23rd at 3.15pm.

23 Jan 2017

Equipment for single-cell genomics launched by Illumina and Bio-Rad

Illumina, Inc. and Bio-Rad Laboratories, Inc. today announced the launch of the Illumina® Bio-Rad® Single-Cell Sequencing Solution at the J.P. Morgan Healthcare Conference. The comprehensive solution is the first next-generation sequencing (NGS) workflow for single-cell analysis, providing researchers the ability to investigate the coordinated contribution of individual cells in tissue function, disease progression, and therapeutic response.

From Illumina, Inc. 12 Jan 2017

NovaSeq, the new sequencer by Illumina, said to transform the field of genomics

Illumina, Inc., the global leader in next-generation sequencing technology, today introduced the NovaSeqTM Series, a new and scalable sequencing architecture expected one day to enable a $100 genome. Unveiled at the J.P. Morgan Healthcare Conference, this platform redefines high throughput sequencing with unrivaled throughput, ease of use, low per sample costs, and unmatched flexibility.

From Illumina, Inc. 12 Jan 2017

Illumina and IBM join forces to grow accessibility to genome data interpretation

IBM Watson Health and Illumina, Inc. today announced a groundbreaking partnership to expand access to genome data interpretation by integrating Watson for Genomics into Illumina’s BaseSpace Sequence Hub and tumor sequencing process. The collaboration is designed to help standardize and simplify genomic data interpretation.

From Illumina, Inc. 11 Jan 2017

Roswell Park study provides new insights into gene mutations that can lead to cancer

Predisposition to cancer and cancer progression can result from gene mutations that cause elevated rates of genetic damage.

11 Jan 2017

Mutations linked to endometrial cancer can be detected in uterine lavage fluid, study reveals

Mutations that have been linked to endometrial cancer can be found in the uterine lavage fluid of pre- and post-menopausal women both with and without detectable cancer, according to a study published in PLOS Medicine by John Martignetti from the Icahn School of Medicine at Mount Sinai, New York, USA, and colleagues.

28 Dec 2016

FDA awards accelerated approval to new ovarian cancer drug

The U.S. Food and Drug Administration today granted accelerated approval to Rubraca (rucaparib) to treat women with a certain type of ovarian cancer.

19 Dec 2016

Presence of tumor DNA in blood linked to poor outcomes in pancreatic cancer patients

The presence of circulating tumor DNA (ctDNA) isolated from blood samples of patients with pancreatic adenocarcinoma was associated with poor outcomes.

19 Dec 2016

AMP publishes joint guidelines for interpretation, reporting of sequence variants in cancer

The Association for Molecular Pathology (AMP), the premier global, non-profit molecular diagnostics professional society, today published guideline recommendations for both clinical laboratory professionals and oncologists that assess the status of next-generation sequencing (NGS)-based cancer tests and establish standardized classification, annotation, interpretation, and reporting conventions for somatic sequence variants.

17 Dec 2016

New research centre aims to study integration of Traditional Chinese Medicine with western medicine

A NEW research centre to study how Traditional Chinese Medicine (TCM) could be used to treat some of the world’s deadliest diseases is being launched in Beijing today.

9 Dec 2016

New research reveals role of two genetic mutations in subset of acute myeloid leukemia

Two genetic mutations known to play a role in many solid cancers might also help explain why a subset of acute myeloid leukemia (AML) patients develop the disease, according to new research from The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute.

7 Dec 2016

Elucigene collaborates with Congenica to develop new NGS kit for cystic fibrosis

The emergence of new therapies that treat the causes of cystic fibrosis are creating an imperative for more accurate variant analysis.

2 Dec 2016

HC-based NGS helps detect genomic alterations not identified in routine lung cancer screening

The use of hybrid capture-based (HC-based) next-generation sequencing (NGS) to identify targetable oncogenic drivers in patients with lung adenocarcinoma results in the detection of genomic alterations (GAs) not identified in routine screening, and impacts treatment decisions and clinical outcomes.

17 Nov 2016

Scientists use latest sequencing technology to review genetic makeup of ataxias syndrome

According to a recent study published in JAMA Neurology, Northwestern Medicine scientists have examined more than a century of data of the genetic makeup of ataxias, a neurodegenerative disorder, to better understand the different forms of this devastating disease and how it affects patients.

8 Nov 2016

Researchers uncover possible targeted therapy for new, high-risk subtype of ALL

An international research team led by St. Jude Children's Research Hospital investigators has uncovered details of a new, high-risk subtype of acute lymphoblastic leukemia (ALL) as well as a possible targeted therapy.