European guidelines establish that an NGS test has to be properly validated before being introduced in the clinical practice.
Our NGS test validation methods support the molecular analysis laboratories in the certification process and limit the use of alternative techniques (e.g.: Sanger sequencing), usually employed to integrate inaccurate tests.
enGenome assists customers in the validation process of new diagnostic tests based on the following NGS applications:
- Amplicon Sequencing
- Targeted Sequencing
- Whole Exome Sequencing
enGenome also provides:
- Optimization of the experimental design of gene panels;
- Report with reliable and quantitative measurements of quality and analytical accuracy.
The American College of Medical Genetics and Genomics (ACMG) established guidelines to correctly report genomic variants identified via NGS experiments, categorized by risk.
Our reporting method allows the interpretation of genomic variants categorized according to the ACMG standard.
enGenome offers genetic reports for the following applications:
- Integration of information from the scientific literature, specific for the diagnostic target
- Integration of the knowledge owned by laboratories, acquired over years of work
- Integration of prediction scores obtained by our prediction tool PaPI
- Enrichment with information about peptide features alteration
- Comparison with open access allelic frequency database (EXac, 1000GP, dbSNP)