Disease-causing genetic variant reporting

We carefully process NGS data to derive genetic variants that pass multiple layers of quality assurance. We report these variants and their pathogenicity according to ACMG guidelines. The reports can be stand-alone text files or web pages via cloud applications.

Our analyses include:

• Variant calling pipelines and quality assurance.
• Ancestry analysis using Admixure.
• Functional annotations.
• Matching against major disease variant databases such as ExAC and ClinVar.
• Predicting pathogenic variants according to ACMG guildlines.
• Evolutionary analysis of genetic variants.
• Gene and pathway analyses.
• Epistatic interaction analysis.
• Polygenic analysis.
• Burden test for rare variants.