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Biomarker

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Biomarker refers to objective indications of medical state, which can be measured accurately and reproducibly. Robust and validated biomarkers are required to understand the disease biology, improve diagnosis and clinical trials, and guide the development of targeted and safe therapies for various diseases. Our next generation sequencing (NGS), genotyping, and expertise delivers far more insight from biomarker genomics than traditional methods.

Benefits of Genomics in the Biomarker Field

Recent advances in NGS, microarray, and bioinformatics have accelerated biomarker discovery and profiling. Biomarker genomics allows researchers to generate sufficient data that span the human genome and simultaneously address a wide range of questions. Biomarker genomics consists of multiple methods, including DNA-, RNA-, and methylation-based profiling on a global scale or at target regions. It allows researchers to detect the known and novel biomarkers on a high-throughput and accurate manner and guide your decision making from drug discovery to the clinic. Biomarker genomics is also used in personalized medicine to predict medical diagnosis and treatment based on a patient’s genetic information.

Genomics Solutions in the Biomarker Field

  • Biomarker Discovery – Gene expression and epigenome based diagnostics promise to diagnose diseases earlier, stratify patients into treatment classes, and predict the response to therapies. The US Food and Drug Administration (FDA) approved the first microarray-based test (MammaPrint, a breast cancer diagnosis that monitors the expression of 70 genes for prediction of cancer risk) on February 6, 2007. Genome-wide microarray/sequencing is used in a preliminary screen to identify candidate biomarker candidates, which are then validated on a large number of samples.

  • Biomarker Profiling – In many fields, a large number of biomarkers have been identified for disease diagnosis/prognosis. Biomarker profiling represents the process to detect whether these biomarkers are present in the patient for basic research, clinic use (disease prognosis/diagnosis, pharmacogenomics, personalized medicine), and drug development. The high-throughput methods for biomarker profiling include NGS panel, microarray, qPCR, etc.

 

Genomics Methods in the Biomarker Field

Whole genome sequencing

Transcriptomics

Transcriptomics is able to map and quantify RNA molecules by harnessing the power of NGS. It is an evolving and continually growing field for discovery of biomarkers related to gene expression, alternative transcripts or splicing events.

Whole genome sequencing

Whole genome sequencing (WGS)

WGS is able to obtain the complete set of DNA sequence of an organism’s genome at a single time, allowing to reveal novel prognostic/diagnostic biomarkers and promising targets of therapy on a global scale.

Whole genome sequencing

DNA methylation analysis

DNA methylation is attracting increasing attention as a potential biomarker. DNA methylation sequencing or microarray technologies serve to detect methylation sites in a high-throughput and accurate manner.

Whole genome sequencing

Bioinformatics solutions

The novel biomarker can be identified by combining case-control genomic data with in-depth data mining and knowledge in biological networks after modern DNA methylation profiling technologies.

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