Genomics|Update|Current ► Assuring the Validity of Next Generation Sequencing

Genomics|Update|Current

Assuring the Validity of Next Generation Sequencing

Analytic validity of genomic testing, Discussion paper, by V. Platt et al., IOM Roundtable on Genomics Translation, Jan 15

Variant validity (selected vs. general population),Discussion paper, by Billings PR, et al. IOM Roundtable on Genomics Translation, Jan 22

The CDC Genetic Testing Reference Materials Coordination Program

The Genome in a Bottle Consortium

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the clarity challenge. 
CA Brownstein, et al. Genome Biology 2014;  15(3):R53.

The American College of Medical Genetics and Genomics  clinical laboratory standards for next-generation sequencing. 
Genetics in Medicine 2013; 15(9):733–747.

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.
Richards CS, et al. Genetics in Medicine, January 2014

Check our Genomic Sequencing (Human) update page for additional links and information