Custom Genome Analysis Interpretation Services and Bioinformatics Pipelines

Custom Genome Analysis Interpretation Services | Bioinformatics Pipelines

Custom-Ordered, Fully Automated Bioinformatics Pipeline for Genome Sequencing Analysis

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
    • HLA Typing
  • 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

 

Whole Genome Sequencing and Genotyping Array Add-On Service

We also provide end-to-end solutions that include worldwide shipping of DNA collection kits for our Ultimate Genome Sequencing service, which includes 30x whole genome sequencing starting at $399 before quantity discounts. This service provides data on all types of genetic variations including SNPs, INDELs, SVs, CNVs, mitochondrial heteroplasmy, HLA typing, and telomere length.

If you're looking for a more affordable option, our Ultimate DNA Test includes an advanced genotyping microarray that provides data on around 30 million variants (SNPs and INDELs). 

Additional information about both tests can be found here.

 

Third-Party Raw DNA Data Analysis

Custom bioinformatics pipelines are also available for importing, processing and interpretation of third-party raw DNA data, such as from direct-to-consumer (DTC) companies. This includes 23andMe, Ancestry, MyHeritage, and FamilyTreeDNA. 

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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