Daniel G. MacArthur

Efficient and accurate mixed model association tool for single-cell eQTL analysis

Understanding the genetic basis of gene expression can help us understand the molecular underpinnings of human traits and disease. Expression quantitative trait locus (eQTL) mapping can help in studying this relationship but have been shown to be very cell-type specific, motivati...

Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic network

Abstract Background An estimated 1 in 12 individuals across the world have a rare disease. The Undiagnosed Diseases Network International (UDNI) recommend Undiagnosed Disease Programs (UDPs) as the best approach to facilitate diagnosis and support for those affected. The Australi...