Bioinformatics Services

Need assistance interpreting your sequencing data?

About Bioinformatics Analysis

Bioinformatics analysis combines computer science, statistics, mathematics, and engineering to study and process biological data. This field is primarily concerned with the analysis of genetic information contained in nucleic acids and data from protein sequences.

Bioinformatics is able to yield large quantities of information because it uses elements of computer science, engineering, biotechnology, and molecular biology to analyze and manage large data sets.
Geneticists have already gained countless new insights into the structure and function of many organisms thanks to the mass amounts of information yielded by this method of sequencing.

The Aims of Bioinformatics Analysis

Bioinformatics is the branch of biology that efficiently organizes vast amounts of biological data, to develop tools for accomplishing that purpose, and to draw meaningful conclusions from those data sets. This sequencing method can be used to make sense of the genetic information of any living thing — from a single-celled organism to an entire, intricate ecosystem.

Recent technological developments have caused a sudden surge in the use of bioinformatics, making it easier to sequence the human genome (consisting of about 3 billion base pairs) than it ever has been before.

Our NGS Bioinformatics Sequencing Services

At Psomagen, we offer a range of bioinformatics services using the sequences of DNA, RNA, or a peptide to understand the unique features of your DNA. Our highly experienced bioinformatics specialists are dedicated to offering these services with the very best quality and accuracy. Our analytical capabilities using extensive next-generation sequencing (NGS) data include — but are not limited to — the following:

  • High-quality control and assurances for data and statistics
  • Discovery of SNPs, InDels, and structural variations including CNVs
  • Annotation of variants
  • Association analysis
  • Gene expression analysis
  • Alternative splicing transcripts identification
  • Peak analysis (ChiP-Seq)

Additional Bioinformatics Services

Whole Genome Sequencing (WGS)

De novo sequencing

  • Basic: Consensus sequence assembled into contigs
  • Advanced: Gene prediction and annotation

RNA Resequencing

  • Basic: Mapping statistics, gene expression profile, SNPs and InDels calling by mapping to reference genome (human, mouse, rat), novel transcripts, alternatively spliced transcripts, fusion gene (human, mouse, rat)
  • Advanced: Customized analysis, differentially expressed genes (DEGs), gene ontology analysis


  • Basic: Mapping to the current reference genome, analysis of mapping statistics, SNPs and InDels calling, variant list in VCF or Excel formats
  • Advanced: A variety of options for mapping algorithms, variant detection algorithms, annotations, mapping to public databases


  • Basic: Variant calling (SNPs/InDels) and annotation
  • Advanced: CNV (Copy Number Variation), various variant calling pipeline, cancer analysis/family analysis/population analysis


  • Basic (Amplicon): Community diversity analysis (OTU), probiotics analysis
  • Basic (Shotgun): Assembly, gene prediction and annotation, taxonomy analysis
  • Advanced (Amplicon): Phylogenic tree, hierarchical taxonomy graph, heatmap, PCA biplot

RNA De Novo Sequencing

  • Basic: De novo assembly statistics, gene expression profile
  • Advanced: Blastnt or blastnr, differentially expressed genes (DEGs), gene annotations, and ontology analysis


  • Basic: Global methylation profiles, specific methylation profiles (CpG islands and differentially methylation regions (DMRs))
  • Advanced: DMR-associated genes, gene set analysis, comparative analysis

Call us for more information about additional bioinformatics solutions for targeted sequencing, small RNA sequencing, long-read sequencing, and more.

Applications of Bioinformatics

In today’s world, bioinformatics is used to understand the genetic factors that underlie disease, the desirable genetic properties of agricultural species, the distinguishing genetic traits among populations, and so much more. Bioinformatics is being used increasingly more in genetic sequencing, medicinal discovery, and even gene expression studies.

More specifically, this tool is useful for finding links between disease and genetic sequences. Therefore, pharmacogeneticists can use this information to alter drugs, vaccines, and medical treatments and tailor them to the DNA of the patients receiving them.

Why Choose Psomagen?

Psomagen’s sophisticated processes are quality-assured to bring you the utmost accurate data in the timeliest manner, at a competitive cost with a flexible and customizable workflow. You can obtain more information regarding our processes and bioinformatics services by contacting us directly and speaking with a representative.

How Our Bioinformatics Services Work and How to Order

We have outlined the bioinformatics workflow for whole-genome sequencing below so you can see how we detect genetic variations.

Quality Control for Raw Data

Quality Control for Raw Data:

Before we analyze data, we conduct a quality assurance process to discover any potential problems with the data sets that would impact the reliability of the results.

Data Preprocessing

Data Preprocessing:

In this phase of the bioinformatics workflow, we remove redundant, irrelevant, or unreliable data.

Alignment v2


The alignment stage involves arranging RNA, DNA, or protein sequences to find similarities that might tell the story of the function, structure, or evolution of the sequence.

Variant Calling

Variant Calling:

Variant calling is the identification of variants within the sequenced data.

Genome Assembly

Genome Assembly:

During genome assembly, many short DNA sequences are reassembled in an attempt to recreate the chromosomes the DNA originated from.

Genome Annotation

Genome Annotation:

At this point, researchers can code the genome, identify the specific gene locations to determine what their function is, and perform an annotation explaining the results.

Advanced Analysis as Needed

Advanced Analysis as Needed

What to Expect When You Work With Psomagen

Psomagen is a CAP-accredited, CLIA-certified research clinic at the forefront of DNA technology. We have immense respect for DNA samples and take great care in every step of your research projects. Our team follows strict quality control processes, and we only hire expert lab staff to make sure you have an outstanding experience with us for every project. When you work with us on your bioinformatics analysis project, you’ll have full support from our geneticists in each stage of your research — whether you’re working on your first or hundredth project.

For more than 20 years, Psomagen Inc. has provided a wide variety of genetic technology services to more than 100 countries. We’re here to support you throughout your research. Contact us to tap into our bioinformatics services today!

Inquire About Our Bioinformatics Services