DNA Sequencing: The Backbone of Personalized Medicine

Concept of Personalized Medical Care As a society, we have been accustomed to the concept of a “one-size-fits-all” approach to healthcare. However, this has not been ideal for many people and limits the success of medical management. There are instances where there is some level of tailoring to the individual, but not to the extent […]

Next-Generation Sequencing Revolutionizes Drug Discovery and Development

Next-Generation Sequencing (NGS) Overview Next-generation sequencing is a massive parallel sequencing technology. Genomic DNA is extracted, fragmented, and linked to adapters and primers for the amplification reaction (PCR) to generate a library. DNA fragments in the library are simultaneously sequenced. This provides a massive set of sequence data in a matter of days. The data […]

Role of Epigenetic Changes in the Etiology of Human Diseases

Introduction The field of epigenetics is ever-growing and considered to be a relatively new branch of genetic research. However, the concept dates back to the 1940s when it was understood as a mechanism that involved gene and gene-product interactions responsible for phenotypic expression1. Epigenetics is now understood as stable, heritable changes in gene expression that […]

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 […]

Role of Next-Generation Sequencing in Cancer Diagnostics

The significant global burden of cancer has led to increased efforts to determine prevention strategies, early detection, and successful management of patients diagnosed with cancer. The latest data provided by the World Health Organization reveal cancer has accounted for 8.2 million deaths as of 2012¹. Early detection and successful treatment are considered important factors in […]

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 […]

Dr. Michael Snyder: Interpretation of Whole Genome Sequencing in Clinics

  Whole genome sequencing (WGS) is a service that has held a lot of promise for the clinical and personalized medicine world. Having treatments and regiments that were specific to your own unique needs is something that many are striving to achieve based off of WGS findings. Dr. Snyder and his colleagues, such as Frederick […]

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 […]

Human Whole Genome Sequencing

Whole genome sequencing or full genome sequencing is a field of study that has proven to be quite critical to the average person. The number of discoveries found through sequencing is rapidly growing by the day.   Of the many applications for genome sequencing, one of the largest is for research. This might apply to […]