Disease-causing Variants

Disease-causing Variants

Seeking Genetic

Seeking Genetic

An end-to-end solution designed to aid clinicians in the identification of disease-causing variants in routine clinical genomic testing

Product Features

Maximizing clinical efficiency

Automated variant detection, annotation, classification, filtering, and prioritization

Reducing manual review effort

Updated informative evidence from databases, literatures, and family information

Improving clinical utility

Ready-to-use application designed for genomic testing to increasing diagnostic rate with reduced time and cost

Demostration

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1. Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases. FDA, Jul. 2016

2. Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics. FDA, Jul. 2016

3. Clinical laboratory standards for next-generation sequencing. ACMG, Sep. 2013.

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ACMG, Mar. 2015.

5. Good laboratory practice for clinical next-generation sequencing informatics pipelines. CDC, Jul. 2015.

6. Guidelines for Validation of Next-Generation Sequencing Based Oncology Panels. AMP/CAP, May. 2017.

7. "Next Generation" Sequencing (NGS) guidelines for somatic genetic variant detection. NYSDOH, Mar. 2015.

8. Guidelines for diagnostic next-generation sequencing. EuroGentest, Oct. 2015.

9. Assuring the Quality of Next-Generation Sequencing in Clinical Laboratory Practice. CDC, Nov. 2012.