The Good Doctors: Interview with Dr. Lock Hock Ngu from Kuala Lumpur Hospital, Malaysia
‘The Good Doctors’ is a programmed series of interviews to meet doctors who encounter patients with rare diseases every day and hear their stories. These interviews…
Is the Autism Spectrum Disorder (ASD) featured in Extraordinary Attorney Woo a genetic disorder?
The television series Extraordinary Attorney Woo streaming on Netflix has become a global box office hit. As proof of its success, it entered the All-time top…
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…
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…
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…