Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.

Abstract excerpt

Massively parallel sequencing has become a powerful tool for the clinical management of patients with applications in diagnosis, guidance of treatment, prediction of drug response, and carrier screening. A considerable challenge for the clinical implementation of these technologies is the management of the vast amount of sequence data generated, in particular the annotation and clinical interpretation of genomic...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Variation
• Share to Genomics
• Share to High-Throughput Nucleotide Sequencing