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Omics Research

Bioinformatics

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

Make Your Data Actionable

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

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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
More on Genomics
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Epigenomics
More on Epigenomics
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Transcriptomics
More on Transcriptomics
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Proteomics
More on Protemoics