of GWAS and PRS

of GWAS and PRS

ntegrated platform for the analyses

Integrated platform for the analyses

TW23 integrated different datasets produce multiple performance results among the six PRS algorithms. You can find the best solution through the analysis results provided by the platform.

Product Features

GWAS

The user-friendly server is developed to facilitate discovery for the genetic variants associated with complex traits and diseases using the popular tool PLINK 2.0 package.

PRS

TW23 conducts several popular PRS algorithms to estimate the genetic liability to the complex traits and diseases according to their genotype profile and relevant GWAS data.

Annotation

TW23 provides an intuitive user interface for information to annotate functional effects of variants with relevant literature using natural language processing approaches.

Demonstration

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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.