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Next Generation Sequencing Applications

Key Applications with Human Biosamples
Next-generation sequencing (NGS) has revolutionized how we study human biosamples for research. With the ability to sequence millions of DNA molecules in parallel, NGS allows us to analyze the genetic information contained in human samples with unprecedented speed and accuracy.  

Next-generation sequencing (NGS) has revolutionized how we study human biosamples for research. With the ability to sequence millions of DNA molecules in parallel, NGS allows us to analyze the genetic information contained in human samples with unprecedented speed and accuracy.  


"NGS allows us to sequence DNA or RNA molecules in large quantities, with high accuracy and at a low cost"


Unlike traditional Sanger sequencing, which is limited to sequencing a single DNA molecule at a time, NGS can sequence millions of DNA molecules in parallel. This is achieved by fragmenting the DNA or RNA sample into small pieces, attaching adapters to the ends of the fragments, and then amplifying and sequencing the fragments using specialized platforms such as those from Illumina, PacBio, or Oxford Nanopore. Key Applications of NGS for Research include:


Genomic and Transcriptomic Sequencing

NGS can sequence a human biosample's entire genome or transcriptome, providing a comprehensive view of its genetic information.


Targeted Sequencing

NGS can also target specific regions of the genome or transcriptome, allowing researchers to study disease-associated genes or variants with high sensitivity and specificity.


Epigenetic Sequencing

NGS can study epigenetic modifications crucial in gene regulation and disease development, such as DNA methylation and histone modifications.


Metagenomic Sequencing

NGS can be used to study the microbial communities present in human biosamples, such as the gut microbiome, which has been linked to various diseases, including obesity, diabetes, and inflammatory bowel disease.


NGS technology is constantly evolving, with new instruments, software, and applications being developed all the time. One of the key challenges facing NGS in human biosample research is the need to analyze and interpret the massive amounts of data generated by this technology. Researchers are developing new algorithms and software tools to handle big data and provide insights into complex biological systems. Here's how NGS is being used for biomedical research:


Disease Genetics

NGS has been instrumental in identifying the genetic basis of many diseases. It has been used to identify single nucleotide polymorphisms (SNPs), copy number variations (CNVs), and structural variations (SVs) associated with various diseases such as cancer, Alzheimer's disease, and autism.


Drug Discovery

NGS has been used to identify potential drug targets and biomarkers. It has also been used to identify genetic variants affecting drug metabolism and toxicity, which can help develop personalized treatment plans.


Personalized Medicine

NGS has the potential to revolutionize personalized medicine by enabling clinicians to customize treatment regimens to individual patients based on their genetic makeup. For example, NGS can be used to identify genetic variants that predict drug efficacy or adverse drug reactions.


Integration of NGS with other technologies

Such as single-cell sequencing and CRISPR-Cas9 genome editing. These technologies enable researchers to study the genetic and epigenetic changes at the single-cell level and to manipulate specific genes and pathways in human biosamples.



NGS has revolutionized how we study human biosamples for research, providing unprecedented insights into the genetic basis of diseases and the complexity of biological systems. As the technology continues to evolve, we expect to see new applications and breakthroughs in human biosample research that will transform how we diagnose, treat, and prevent diseases. 



Please click on the links below to inquire about the Compare Biomarket® range of clinical biospecimens and services suitable for your unique human health research needs.

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