Publications
Diagnostic performance of exome analysis in patients with neurodevelopmental delay
A paper on the use of an automated, streamlined daily update & reanalysis system at 3billion, in effect since April 2021, has been published in Molecular…
Insights
Practical tips on understanding whole exome sequencing test results
Whether it is a WES/WGS test for clinical purposes or a DTC test from 23andme or Ancestry that provides ancestry information, a genetic test includes…
Insights
What are the ACMG Standards and Guidelines and how do they work?
Recently, Next Generation Sequencing (NGS) technology such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) has been increasingly used for the diagnosis of patients…