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Next Generation Sequencing Offers Powerful Uses in Research and Medicine

Next generation sequencing can transform your research and applications. With more data available at lower costs, next generation sequencing lets researchers ask and answer nearly any question about the genome of any organism.

What’s more, next generation sequencing techniques are constantly evolving, with new opportunities emerging each year.

Here is a closer look at some of the ways next generation sequencing can be applied to various fields of research and medicine.

Microbiology Research

Use next generation sequencing to identify new viruses, characterize organisms that cannot be cultured and find new strategies for addressing outbreaks. Among the applications in microbiology research are:

  • 16S rRNA Sequencing. Use sequencing and data analysis to identify and compare archaea and bacteria present in a given sample
  • Whole-Genome Sequencing. Create accurate reference genomes for use to identify microbes or other comparative genomic studies
  • Shotgun Metagenomics. Detect, identify and categorize microbes that are in low abundance
  • Virology. Complete deep-sequencing analyses to report on subtyping, genotyping and inferred resistance levels for various viruses, including influenza, Ebola and Zika

Complex Disease Research

Complex diseases are caused by both environmental and genetic factors, many of which are not yet fully understood. While many diseases are highly based on genetics, others do not follow a clear model of inheritance and are not the result of a mutation of a single gene.

More than 90 percent of complex disease variants are in non-coding portions of the genome and the vast majority are polygenic, including atherosclerosis and other forms of heart disease, autoimmune disorders, neurological disorders, psychiatric disorders and rheumatic diseases.

Because so many are multifactorial in nature, research into complex disease has been challenging and costly. However, new technologies in next generation sequencing and arrays are accelerating research. That means a better understanding of disease etiology and the hope of diagnosis, treatment options and prevention of these diseases.

Among the applications that next generation sequencing provides are:

  • Disease Association Studies, which can uncover common and rare variants related to a disease
  • Differential Expression Analysis that measures changes in gene expression in response to different conditions or stimuli
  • Epigenetic Analysis, which provides insights into the biological functions that change gene activity
  • Polygenic Risk Scoring, which approximates a person’s risk for disease and can be used to stratify patients for clinical trials and categorize samples for cohort analyses

Cancer Research

Next generation sequencing tools give researchers more information faster compared to single-gene and array-based techniques. Using next generation sequencing techniques, researches can do targeted gene profiles, tumor-normal comparisons and whole-genome studies. These techniques also allow researchers to detect genetically diverse subpopulations of cells in tumors, rare variants or circulating DNA fragments.

Cancer sequencing techniques include:

  • Cancer Whole-Genome Sequencing that provides a comprehensive view of unique mutations in tumor tissue
  • Cancer Exome Sequencing, which can identify cancer-related coding variants
  • Targeted Cancer Sequencing, which allows researchers to focus on sequencing genes or genomic regions that have known associations with cancers
  • Cancer RNA Sequencing, which allows for determination of genes that are overexpressed or underexpressed in tumors
  • Circulating Tumor DNA Sequencing, which uses next generation sequencing with the specificity and sensitivity to detect low levels of circulating tumor DNA


For families facing critical decisions about their lives, next generation sequencing provides data to help make the best choices.

Next generation sequencing provides rapid, accurate and comprehensive detection of genetic variances that can provide information about disease risk factors for inherited disorders. Preconception genetic testing helps would-be parents understand if they are at risk of passing on genetic disorders to their children.

These tests can also help inform couples seeking IVF treatment, identifying chromosomal abnormalities. For those doing IVF, preimplantation genetic screening and genetic diagnosis can help assess which embryos are likely to thrive and prevent transmission of genetic condition.

Next generation sequencing is a powerful technology with opportunities across research and medicine. To learn more, contact us today.

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