Introduction: Improvements in sequencing technologies have helped to refine diagnosis and
patient stratification via molecular genetic testing for a number of conditions. Consequently …

Adoption of whole-genome sequencing as a routine biomedical tool is dependent not only
on the availability of new high-throughput sequencing technologies, but also on the …

Genome sequencing is now a sufficiently mature and affordable technology for clinical use.
Its application promises not only to transform clinicians' diagnostic and predictive ability, but …

Technological advances often outpace our ability to effec-tively use them, a situation that
certainly could pertain to modern genomics. Breathtaking advances in genetic sequencing …

The sequencing of the human genome and technological advances in DNA sequencing
have led to a revolution with respect to DNA sequencing and its potential to diagnose …

Next generation genomic sequencing (NGS) technologies—whole genome and whole
exome sequencing—are now cheap enough to be within the grasp of many health care …

Human genome sequencing is the process by which the exact order of nucleic acid base
pairs in the 24 human chromosomes is determined. Since the completion of the Human …

Purpose The debate surrounding the return of results from high-throughput genomic
interrogation encompasses many important issues including ethics, law, economics, and …

We are entering an era in which the cost of clinical whole-genome and targeted sequencing
tests is no longer prohibitive to their application. However, currently the infrastructure is not …

This report of the Whole Genome Analysis group of the Association for Molecular Pathology
illuminates the opportunities and challenges associated with clinical diagnostic genome …