Bioinformatics

Make your biological genomics, transcriptomics, and proteomics data actionable with bioinformatics software tools and pipelines.

What is Bioinformatics?

Bioinformatics software tools and pipelines help scientists analyze data.

After NGS is complete, a demultiplexing step associates each read with its sample of origin based on its unique DNA barcode. The raw data file generated is a bcl file (binary base call) or fastq file (text-based).

Through data mining, each sample’s sequences are then aligned to known reference and annotation information to provide in-depth analysis to provide phenotype, variant calls, and gene expression among other in-depth analysis.

Why is Studying Bioinformatics Important?

Sequencing generates daunting masses of data. Analyzing it manually is not a reasonable option.

Fortunately, a variety of bioinformatics tools can be applied for fast interpretation, to enhance our understanding of biology, improve disease diagnostics, and/or aid in therapeutic development.

Bioinformatics Tools

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Genomics Analysis

Single Nucleotide Variants (SNV)
Insertions and Deletions (Indel)
Copy Number Variants (CNV)
Structural Variants (SV)
Somatic Mutation Identification
Annotated Reporting
Family Trio Analysis
Pathogenicity Scoring
Phenotype Relationship

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Epigenomics Analysis

Methylation Profiling
Functional Location Mapping
Differentially Methylated CpGs
Annotated Peak Calling
Peak Visualization
Motif Discovery
Small RNA Expression Profile
Categories of Small RNA

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Transcriptomics Analysis

Gene Expression
Alternative Splicing
Novel Transcript Identification
Isoform Identification
Variant Annotation
Single Nucleotide Variants (SNV)
Fusion Gene Identification
Novel Alternative Transcript Identification
Differential Gene Expression (DEG)
10X scRNA Cell Ranger
10X scRNA Aggregation & Seurat Analysis
10X scRNA Trajectory Analysis

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Proteomics Analysis

Normalized Protein Expression (NPX)
Absolute Protein Quantitation (Target 48 Cytokine only)
Statistical Analyses
Data Visualization

Ready for the Next Step?

Here's a little information on our ordering process.

If you're already a customer, you can skip to ordering by clicking below.

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Request a Consultation or Quote

Get in touch with your local field team and start designing a project. We’ll help drive your research forward with the right tools for your investigative needs.

Let's Talk!

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Create, Manage and Track Your Project

At this step you'll be able to keep an eye on all the various methods and platforms we’re using to ensure your starting material will produce the most in-depth information possible. It’s easy to get in touch with us if you have a question or concern.

Reach Out!

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Get Your Data and Analysis Reports

Securely access your raw data and view detailed analyses specific to your scientific question all in one place. Then reach out to our bioinformatics scientists to dig deeper into the results.

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Go to Our Customer Portal

Ready to get started on a new project or check in on an existing one? Do that — and more in our customer portal.

Let's Go!

End-to-End Multiomics Services

Harness Psomagen’s full portfolio of services to power your combined genomics, transcriptomics, and proteomics investigations. Then employ our formidable bioinformatics capabilities to unlock a wealth of knowledge and enable discoveries.

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Genomics

The most comprehensive way to investigate an entire genome. Get the whole genetic story or focus on the role of exons, introns, and untranslated regions using top tools and technologies.