Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

Kim De Leeneer1, Joachim De Schrijver, Lieven Clement

  • 1Center for Medical Genetics, Ghent University, Ghent, Belgium. Kim.deleeneer@UGent.be

Plos One
|October 8, 2011
PubMed
Summary

Massively parallel sequencing (MPS) enables multigenic disorder diagnostics. This study provides practical strategies, coverage requirements, and tools to optimize MPS for reliable molecular diagnostics in patient cohorts.