Entries by psomagen

HLA and Pharmacogenetics

Introduction For years, the unpredictability of drug reactions has served as an underlying uncertainty in the safety of medications. This is because many of these reactions are specific to certain individuals and populations and under specific circumstances with an unknown basis. Adverse drug reactions can be very medically devastating, leading to severe consequences including death. […]

The Promise and Security Risks of using Cloud-Based Informatics Solutions for Human Genomic Data Analysis

Introduction The ability for medical and research scientists around the globe to share data has enhanced the progress of medical discovery and healthcare delivery. Instant access to information via cloud-based technology by researchers and healthcare providers allows more time spent acting on and processing data. However, large bodies of data (aka “big data”) generated through […]

Molecular Basis of Immune Diversity and Emerging Clinical Applications

Introduction A wide variety of immune mechanisms have evolved in living organisms that serve to protect them from many types of disease-causing agents. These mechanisms differ in various ways including in how the immunity develops and how the agents or pathogens are processed and destroyed by the organism’s immune cells. These different mechanisms of defense […]

Advances in Characterizing the Genetic Basis of Autism

Introduction The diagnosis of autism spectrum disorders (ASD) continues to be challenging and depends on neurological and psychological analyses. A number of risk factors and genetic associations with the disorder have been identified. However, work is ongoing to better characterize the genetic basis of ASD, to determine how to identify the risk for ASD, and […]

Circulating Tumor DNA Methodologies

Introduction The analysis of cell-free DNA or liquid biopsy is emerging as a noninvasive clinical tool to aid in achieving accurate diagnoses. It is also a valuable research tool to determine biomarkers of disease, identify drug targets, and ascertain the factors responsible for drug resistance. Circulating tumor DNA refers to cell-free DNA that are fragments […]

Home DNA vs. Clinical DNA: What’s the Difference?

Introduction Various types of home diagnostic testing or screening have placed more power and control of individual health information and care in the hands of consumers. We are well familiar with and may have used (or know someone who has) blood pressure kits, glucose measurement kits, and home pregnancy tests. Due to the next-generation sequencing […]

Using Next-Generation Sequencing in Infectious Disease Diagnosis

Introduction The need for accurate and rapid identification of infectious agents in individual illness and global health threats cannot be overstated. Limitations in the timeliness and accuracy of pathogen identification have devastating public health consequences. The current methods that are routinely used often provide data in a time span that does not allow the most […]

Next-Generation Sequencing: Popular Applications in Clinical Medicine

Introduction and Brief overview of NGS An important technological advance in the practice of diagnostic and clinical medicine is next-generation sequencing (NGS). This technology is rapidly transforming clinical practice by providing a means to obtain both diagnostic and prognostic data with the same data. This transformation is made possible because of the cost-effective and rapid […]

Are You DNA Smart?

Introduction and Key Definitions Deoxyribonucleic acid (DNA) is the blueprint that contains the instructions for cells (and thus an organism) to function. This includes for reproduction, growth, maintenance, and all other functions that sustain life. This role of DNA is mediated through what is called the central dogma. In the basic sense, DNA codes for […]