Technology

New innovations reduce the barriers to genetic testing

Blueprint Genetics’ NGS solutions are combined with effective bioinformatics pipeline and interpretation processes enabling quick and cost-efficient genetic testing that you can realistically choose as a diagnostic tool in the initial stages of patient care.

DNA sequencing approaches that utilize next-generation sequencing (NGS) technology enable rapid, high-quality analysis of genes relevant to specific diseases.

What takes months of processing using traditional methods can be back with the clinician in just 10-28 days using tests provided by Blueprint Genetics.

Technology

Blueprint Genetics is applying a powerful molecular biology approach called next-generation sequencing to analyze patients’ DNA. Changes in DNA sequence can cause errors in proteins and result in severe medical conditions. Hereditary diseases are caused by mutations originating in germ cells and presenting in all cells of an individual. Determining the underlying DNA changes creates opportunities to diagnose hereditary diseases, estimate the prognosis, and select adequate preventive treatments.

Next-generation sequencing is enabling comprehensive analysis of thousands of clinically relevant target genes in a time frame that facilitates clinical actions. DNA sequencing detects different types of mutations exchanging single nucleotides (point mutations) or adding or removing nucleotides (insertions and deletions).

With targeted sequencing, it is possible to identify all mutations that have been previously linked to specific genetic disorders as well as novel variants in the disease-associated genes.

High-quality sequencing

  • In average, 99.4% of base pairs in target region covered at least 20x depth
  • Highly uniform sequencing depth across all target genes
  • >99.7% sensitivity and 99.9% specificity for SNPs 
  • 96.9% sensitivity for 1-10 bp indels
  • Reportable range of insertions 1-221 bp
  • Reportable range of deletions 1-210 bp

Effective Bioinformatics Pipeline

Dedicated Computing Infrastructure Analysis of data from NGS applications is a complex process, imposing challenging requirements both in terms of computing resources and software. The proprietary automated bioinformatics pipeline developed and employed at Blueprint Genetics, enables fast, reliable, and highly accurate results.

Minimized False Positive Rate

In addition to incorporating state-of-the-art algorithms for quality control, alignment, and variant calling, the pipeline also employs filtering steps to remove common variants based on allele frequencies in population cohorts. Moreover, the functional consequence of amino acid changes is predicted with multiple in silico tools increasing the accuracy in the identification of potentially pathogenic variants.

Results Validation

To further aid the process of variant interpretation, results are matched against a comprehensive set of databases of disease-related mutations, collected and curated in-house, and accessed from the public domain or licensed from commercial sources. In summary, the bioinformatics pipeline at Blueprint Genetics is designed to provide our geneticists with comprehensive and accurate information in the minimum amount of time.