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The word "AUTISM?" spelled out in child's blocks. "Is it autism?" is a question many parents have about their kids.

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 to design the best therapies for those diagnosed with ASD. Given the high heritability, the…

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How NGS is Enabling the Ability to Counter Biological Aging

Introduction Aging has been accepted as a normal biological process that is inevitable. This deterioration of structure and function and loss of homeostasis over time is considered to some to be a collection of pathological processes or disorders that can be slowed or stopped. The search for the fountain of youth is ageless. Studies in the search for this “fountain” have begun to focus on the relationship between gene expression…

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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 of DNA released from tumor cells and appearing in the blood circulation. Major challenges to…

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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 (NGS) revolution, it is now possible to achieve home DNA sequencing for medical applications. However,…

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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 effective, specific, and direct treatment options. This leads to antibiotic treatments that are broad, based…

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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 nature of NGS.   Next-generation sequencing is a massive parallel sequencing method allowing the sequencing…

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Are You DNA Smart? Take the Quiz!

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 RNA that subsequently codes for proteins. An exception to this is the case of some…

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The Top 5 Next Generation Sequencing (NGS) Forums and Communities

Next Generation Sequencing (NGS) has seen massive growth as the demand for low-cost sequencing has exploded. Information on NGS, though, is highly technical, and it’s important to go to the right sources to discuss the varying technologies in the field. These are the top 5 Next Generation Sequencing forums in 2016:   SEQanswers SEQanswers is a forum dedicated specifically to the topic of Next Generation Sequencing. It takes up the…

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DNA Sequencing Uncovers New Variant of Diabetes

DNA Sequencing and Medical Discovery Diagnostic Applications The ability to rapidly know the exact cause of an ailment or disease is the first and often a difficult challenge in the path to recovery.  A symptom or set of symptoms can point to a number of different conditions. Diagnostic approaches are employed to decipher the historical and symptom information. However, there are many diagnostic approaches that still do not unequivocally reveal…

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Macrogen Corp Announced as precision FDA Participating Provider

Macrogen Corp., one of the leading providers of next-generation sequencing services, has been announced as a participating provider in precisionFDA. The precisionFDA web platform is part of President Obama’s vision with his Precision Medical Initiative announced last year. The administration’s goal is to move away from a “one-size-fits-all” approach to medicine and move towards a personalized medicine approach that takes into account differences in people’s genes, environments, and lifestyles. The…

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