Custom Bioinformatics Pipeline | Genome Alignment, Variant Calling and Interpretation

Custom Bioinformatics Pipeline | Genome Analysis and Interpretation

Fully Automated Bioinformatics Pipeline for Laboratory Partners of Sequencing.com

Whole Exome (WES) and Whole Genome (WGS) Data processing service including:

  • Secure Data Import
  • Data Quality Control Checks
  • Pre-Processing
  • Primary Analysis
    • Alignment
    • Telomere Length
    • Methylation
  • Secondary Analysis
    • SNV calling
    • DIV (INDEL) calling
    • SV (Structural Variant) calling
    • CNV (Copy Number Variation) calling
    • Mitochondrial Heteroplasmy
  • Annotations
  • Tertiary Analysis
    • Phenotype Interpretation
    • Report Generation
    • Seamless, automated processing with any app from our DNA App Store
      • The world's largest marketplace of tertiary analysis apps including health, wellness, nutrition, fitness, genealogy/ancestry, rare diseases, pharmacogenomics and more.
  • Confidential, HIPAA-compliant Data Storage
    • fastq, bam, sam, cram, genome vcf (gVCF), clinical+ vcf and regular vcf
  • Online, secure delivery of data files, interpretation (genetic reports) and app results to the laboratory's customers

Fully automated cloud-based bioinformatics pipelines for genome sequencing analysis customized for laboratory partners.

Highly secure and confidential genome data analysis and storage.

GDPR-compliant and HIPAA-compliant.

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