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 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
Genomics Analysis 
Actionable, high-throughput human protein profiles specific to cardiometabolic, inflammatory, neurological, and oncological disease states.
- 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
Epigenomics Analysis
Actionable, high-throughput human protein profiles specific to cardiometabolic, inflammatory, neurological, and oncological disease states.
- Methylation Profiling
- Functional Location Mapping
- Differentially Methylated CpGs
- Annotated Peak Calling
- Peak Visualization
- Motif Discovery
- Small RNA Expression Profile
- Categories of Small RNA
Transcriptomics Analysis
Actionable, high-throughput human protein profiles specific to cardiometabolic, inflammatory, neurological, and oncological disease states.
- 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
Bioinformatics in Action
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.
