Since the completion of the human genome project in 2003, extraordinary progress has
been made in genome sequencing technologies, which has led to a decreased cost per …

As research laboratories and clinics collaborate to achieve precision medicine, both
communities are required to understand mandated electronic health/medical record …

If genome sequencing is performed in health care, in theory the opportunity arises to take a
further look at the data: opportunistic genomic screening (OGS). The European Society of …

The rapid evolution and widespread use of next generation sequencing (NGS) in clinical
laboratories has allowed an incredible progress in the genetic diagnostics of several …

Newborn screening was first introduced at the beginning of the 1960s with the successful
implementation of the first phenylketonuria screening programs. Early expansion of the …

The rapid development of genomic sequencing technologies has decreased the cost of
genetic analysis to the extent that it seems plausible that genomescale sequencing could …

Purpose As whole-exome sequencing (WES) and whole-genome sequencing (WGS) move
into routine clinical practice, it is timely to review data that might inform the debate regarding …

We report principles and guidelines (Supplementary Note) that were developed by the Next-
Generation Sequencing: Standardization of Clinical Testing II (Nex-StoCT II) informatics …

The past decade has witnessed an explosion of evidence suggesting that many
neurodegenerative diseases can be detected years, if not decades, earlier than previously …

Next-generation sequencing (NGS) has enabled whole-exome and whole-genome
sequencing of tumors for causative mutations, allowing for more accurate targeting of …