Next generation sequencing NGS News and Research

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Study supports need for diagnostic analysis of germline and tumor biomarker information

A core tenet of precision medicine is that predictive biomarkers can enhance therapeutic decision-making. In a new pilot study, scientists at Molecular Health analyzed a randomly selected set of 250 patients with solid tumors and detected predictive biomarkers in more than 85% of tumors.

30 Jun 2015

Kalorama Information: NGS diagnostics can detect any number of genetic variants

Next generation sequencing may be able to bypass some of the downside of molecular testing and in doing so earn its place in clinical testing, according to Kalorama Information.

30 Jun 2015

7th Annual Personalized & Precision Medicine Conference to be held in Baltimore from Oct. 5 to 6, 2015

Arrowhead's 7th Annual Personalized & Precision Medicine Conference is coming to Baltimore, MD on October 5-6, 2015 as an official satellite event to the American Society for Human Genetics Annual Meeting.

30 Jun 2015

Scientists develop high-throughput strategy to build de novo genomes

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled researchers to detect complex forms of genomic variation, critically important for their association with human disease, but previously difficult to detect.

30 Jun 2015

Rare genetic variants in A2ML1 gene responsible for chronic middle ear infections, say researchers

Many parents have heard the night-time cry of "my ear hurts." For some children, this might happen frequently beginning in infancy and even persist into adulthood. An international consortium led by those at Baylor College of Medicine may have taken the first step on the road to understanding why only some people get frequent painful or chronic middle ear infections. The culprit may be rare genetic variants in a gene called A2ML1.

30 Jun 2015

Scientists examine rates of secondary mutations in biomarker genes

Many tests for predictive biomarkers in tumors focus on selected known mutations or regions (e.g. hotspot panels). In a new study, scientists at Molecular Health examined the rates of secondary mutations in known biomarker genes and their potential impact on the diagnostic reliability of specific single-nucleotide variant (SNV) biomarker testing.

29 Jun 2015

Hiroshima University researchers develop accurate method to detect drug resistant HCV mutation

A rapid, sensitive, and accurate method to detect drug resistant hepatitis C virus (HCV) mutants has been developed. Researchers at Hiroshima University established a system to rapidly and accurately measure the presence of HCV Y93H drug resistant mutant strains, and evaluate the proportion of patients harboring this mutation prior to treatment.

29 Jun 2015

NGS technology helps identify new mitochondrial disease gene

Next Generation Sequencing (NGS) technology offers an incredible opportunity for the rapid and relatively low-cost characterization of individual genomes, giving us a chance to make a substantial leap ahead in the molecular dissection of all mitochondrial disorders in humans.

27 Jun 2015

SeraCare Life Sciences inks CRADA with NCI to create positive controls for cancer assays

SeraCare Life Sciences, a leading partner to global in vitro diagnostics manufacturers, today announced that it has signed a Cooperative Research and Development Agreement (CRADA) with the National Cancer Institute, part of the National Institutes of Health, to create reference materials and positive controls for cancer assays.

26 Jun 2015

Hitachi High-Technologies, QIAGEN form new strategic partnership to advance molecular testing

Hitachi High-Technologies Corporation and QIAGEN N.V. have entered into a long-term strategic collaboration involving initiatives to deliver important advances in molecular testing.

From QIAGEN Manchester Limited 18 Jun 2015

New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

An International Osteoporosis Foundation Working Group on Skeletal Rare Diseases has published a new classification of rare genetic metabolic bone disorders (RGMBDs) according to their metabolic pathogenesis.

18 Jun 2015

NeoGenomics announces launch of new NeoLAB assays to diagnose hematologic diseases

NeoGenomics, Inc., a leading provider of cancer-focused genetic testing services, announced today the launch of its first twelve tests in a new line of "liquid biopsy" or NeoLAB assays using next generation sequencing and other advanced molecular technologies.

11 Jun 2015

OGT launches new arrays for developmental disorders at ESHG

Oxford Gene Technology (OGT), The Molecular Genetics Company, is today launching a new range of arrays at the European Society of Human Genetics (ESHG) Conference in Glasgow, UK, that are dedicated to elucidating the underlying causes of developmental delay.

From Oxford Gene Technology 10 Jun 2015

NGS mutational testing can help detect patients with Barrett's esophagus

Barrett's esophagus (BE) develops in a subset of patients with gastroesophageal reflux disease (GERD) and can increase the risk of developing cancer of the esophagus. Although periodic surveillance for cancer is recommended for BE patients, these examinations may fail to identify pre-cancerous dysplasia and early cancers.

9 Jun 2015

Intermountain Precision Genomics: Precision medicine can benefit advanced cancer patients without increasing costs

Two new studies conducted by Intermountain Healthcare’s Intermountain Precision Genomics reveal that precision medicine can improve survival in advanced cancer patients – and do so without increasing costs.

2 Jun 2015

$Matched therapy and FoundationOne genomic profiling improve outcomes in patients with refractory cancer$

Matched therapy and FoundationOne genomic profiling improve outcomes in patients with refractory cancer

Foundation Medicine, Inc. and collaborators from the University of Texas MD Anderson Cancer Center and Sarah Cannon Research Institute at HealthOne today announced compelling new data demonstrating that matching patients to targeted therapies based on the unique molecular profile of the patient’s advanced cancer leads to improved outcomes across a variety of key measures, including overall survival.

2 Jun 2015

Clinical utility of Caris Molecular Intelligence in five studies to be presented at ASCO 2015

Caris Life Sciences, a leading biotechnology company focused on fulfilling the promise of precision medicine, today announced the presentation of data from five studies that demonstrate the clinical utility of Caris Molecular Intelligence®, the company's panomic comprehensive tumor profiling service, in helping to identify targeted treatment options for patients with rare and/or aggressive tumors.

1 Jun 2015

Caris Molecular Intelligence allows comparisons between tumors sharing histological features

Caris Life Sciences, a leading biotechnology company focused on fulfilling the promise of precision medicine, today announced the presentation of data from three studies that demonstrate the utility of Caris Molecular Intelligence®, the company's panomic comprehensive tumor profiling service, in facilitating comparisons between tumors that share histological features.

1 Jun 2015

Researchers identify key driver mutations in glioma samples that confirm tumor heterogeneity

Caris Life Sciences today announced the presentation of data from a study in which researchers identified biomarker changes, including key driver mutations, in 89% of metachronous paired glioma tumors, indicating changes in response to therapy as the disease progresses.

1 Jun 2015

Novartis to highlight strength of its expanded oncology portfolio at ASCO 2015

Novartis will highlight the strength of its expanded oncology portfolio in 21 medicines and 11 investigational compounds across more than 185 data presentations at the upcoming American Society of Clinical Oncology (ASCO) Annual Meeting, May 29-June 2, and the Congress of the European Hematology Association (EHA), June 11-14.

1 Jun 2015

Next generation sequencing NGS News and Research

Study supports need for diagnostic analysis of germline and tumor biomarker information

Kalorama Information: NGS diagnostics can detect any number of genetic variants

7th Annual Personalized & Precision Medicine Conference to be held in Baltimore from Oct. 5 to 6, 2015

Scientists develop high-throughput strategy to build de novo genomes

Rare genetic variants in A2ML1 gene responsible for chronic middle ear infections, say researchers

Scientists examine rates of secondary mutations in biomarker genes

Hiroshima University researchers develop accurate method to detect drug resistant HCV mutation

NGS technology helps identify new mitochondrial disease gene

SeraCare Life Sciences inks CRADA with NCI to create positive controls for cancer assays

Hitachi High-Technologies, QIAGEN form new strategic partnership to advance molecular testing

New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

NeoGenomics announces launch of new NeoLAB assays to diagnose hematologic diseases

OGT launches new arrays for developmental disorders at ESHG

NGS mutational testing can help detect patients with Barrett's esophagus

Intermountain Precision Genomics: Precision medicine can benefit advanced cancer patients without increasing costs

Matched therapy and FoundationOne genomic profiling improve outcomes in patients with refractory cancer

Clinical utility of Caris Molecular Intelligence in five studies to be presented at ASCO 2015

Caris Molecular Intelligence allows comparisons between tumors sharing histological features

Researchers identify key driver mutations in glioma samples that confirm tumor heterogeneity

Novartis to highlight strength of its expanded oncology portfolio at ASCO 2015

Introduction to NGS library prep miniaturization and automation 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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