Macrogen Provides Patient-Specific Interpretation for the Launch of New Clinical Next-Generation Sequencing Panels

Macrogen has recently partnered with N-of-One, a leader in clinical interpretation, with the goal of delivering high-level clinical interpretation for its newly launched clinical next-generation sequencing panels. N-of-One enables laboratories to save time and money while scaling their molecular diagnostics programs. It also provides therapeutic options to client organizations for thousands of cancer patient cases. […]

Managing High-Throughput DNA Sequencing Data

Introduction The newest sequencing technologies are providing new insights into disease etiology, individual susceptibilities, keys to drug discovery, and more. However, there are many questions and challenges regarding how to understand the meaning and applicability of the newfound wealth of data. As new data is generated at record rates, scientists are working diligently on the […]

Macrogen and Silicon Biosystems Menarini to Co-Develop CLIA-Certified Genomic Cancer Assays

Collaboration Aims to Integrate Digital Sorting with Next Generation Sequencing (NGS) of Formalin-Fixed Paraffin-Embedded Biopsies and Fine-Needle Aspiration Samples SAN DIEGO and SEOUL, South Korea, Feb. 12, 2016 /PRNewswire/ — Silicon Biosys­tems Menarini and Macrogen, Inc. today announced they will form a partnership to provide clinical assays and innovative procedures for precision medicine in cancer. […]

How Transposons are Changing the Sequencing Industry

Introduction Mobile DNA segments that can change position, transpose, are transposons (or transposable elements). These “jumping genes” discovered by Barbara McClintock 70 years ago exist in species of all kingdoms, from bacteria to humans. Transposons make up large portions of a species’ genome and have key biological functions. In humans, transposons make up nearly 50% […]

The Race for the $1,000 Genome: The Increasing Speed and Accuracy of DNA Sequencing

Science fiction fans remember the Star Trek tricorders that rapidly rendered a diagnosis, or the database that could provide the entire past and present information (even the molecular details) of a scanned planet. The state of science, as we live it today, reflects the path to bring many of these concepts into fruition. Although discovering […]

Using Exome Sequencing to Aid in Diagnosing Ataxias

  Clinical exome sequencing has proven to be an extremely valuable tool in the world of diagnostics as explained by Christopher M. Gomez, MD, PhD and Soma Das, PhD. While the volume of genetic information continues to grow, one of its many applications can be applied to conditions such as ataxia. Many studies have been […]

Michael Snyder, iPop, and Personalized Medicine [Video]

Even though others didn’t believe him at first, Michael Snyder knew that something was wrong when his sugar levels were increasing more than normal. His own physician didn’t believe it, but through studying his own genetics he found that he has Type 2 diabetes. None of his family members had it that he was aware […]

Using Whole Genome Sequencing in Patients with Neuromyelitis Optica

In the April 2014 Edition of Neurology, Benjamin Greenberg, Douglas Kerr, Tim Harris, Aaron Day-Williams and John Carulliwrote about a study that was conducted to deduce the inheritance pattern of those who suffered from Neuromyelitis Optica. Neuromyelitis Optica is an uncommon autoimmune disorder that can affect the nervous system, optic nerves, and the spinal cord. […]

Winner of Lasker Award Calls for Universal Cancer Screening

On Monday morning the Albert and Mary Lasker Foundation Awards were announced according to a New York Times article. One of the winners of these awards used her spotlight in a very constructive way- she called for widening the use of genetic screening for breast and ovarian cancer. Mary-Claire King, 68, Departments of Medicine and […]

Ebola Outbreak Leaves Behind Genome Sequences

On August 28, 2014, researchers from Harvard University and the Broad Institute released a report that sequences and analyzes the genomes from the recent outbreak of the Ebola virus in Sierra Leone. Stephen Gire and Pardis Sabeti of Harvard and the Broad Institute led the collaborative effort of more than 50 co-authors. The research is […]