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Dr David Humphreys

Dr David Humphreys is a Senior Scientist who has training in both molecular biology and computer science. He manages the Genomics and Bioinformatics Core Facility at the Victor Chang Cardiac Research Institute where he carries out all aspects of library preparation, sequencing and downstream analysis.

 Dr Humphreys has a number of active research collaborations, primarily with Victor Chang Institute faculty and St Vincent’s Hospital cardiologists, utilising RNA‐Seq and exome/genome sequencing. His contributions to projects incorporate both laboratory work and bioinformatic analysis. In the lab, he has experience in generating sequencing libraries for both RNA and DNA applications for Proton and Illumina sequencers. 

 Dr Humphreys was the lead bioinformatician in setting up the entire variant calling pipeline that was used for whole exome and genome sequencing studies that led to multiple key publications in discovering the genetic cause of congenital malformations. This includes a landmark 2017 New England Journal of Medicine paper that defines a new cause and potential prevention of congenital malformation due to NAD deficiency.

 In addition to his core service duty at the Victor Chang Institute, Dr Humphreys is also passionate about empowering biologists to access and analyse high throughput sequencing data sets. On his own initiative, he has developed and published two software pipelines (miRspring and Ularcirc) to help scientists who have minimal bioinformatic skills. The miRspring generates a compact HTML document that captures and provides functionality to analyse a complete miRNA data set. Ularcirc is a R shiny app that provides a complete circular RNA analysis of multiple data sets.

Bioinformatics & Systems Medicine 

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