Whole-genome or whole-exome sequencing is widely used to identify nucleotide variants that cause rare and hereditary diseases. Selecting optimal nucleotide variants to best determine all of patient’s phenotypes could be time-consuming and require tests on various inheritance types (recessive, dominant, de novo). In order to determine the inheritance pattern of a given disease, we observe an increasing use of Trio-analysis, which involves the DNA analyses of three people: the mother, the father and the proband. The comparison of sequencing results of 3 related people allows for quick, precise and easy determination of their phenotype and correlated diseases.
Our offer includes the Trio-analysis comprised of:
- detection of SNVs and rare mutations in DNA sequencing results of the father, the mother and the proband;
- comparison of detected variants, detemining statistical relevance of the results;
- determining the inheritance pattern (recessive, dominant, de novo);
- determining the pathogenicity of a variant and the effect of its occurrence;
- determining the frequency rate of a variant in European, Asian, American, African and global populations;
- correlating a detected variant with disease units;
- choosing pharmacological therapy;
- a list of available medical clinics and experimental researches in Poland and abroad;
- annotation of detected variants to the information in biological and diagnostic databases.