These recent papers highlight the world-leading work of Dr Daniel MacArthur. The Centre will build on these resources to extend the advantages of genomic medicine to all Australians.
- The mutational constraint spectrum quantified from variation in 141,456 humans
- Transcript expression-aware annotation improves rare variant discovery and interpretation
- Evaluating potential drug targets through human loss-of-function genetic variation
- The effect of LRRK2 loss-of-function variants in humans
- An open resource of structural variation for medical and population genetics
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals.
Other selected work
- Landscape of X chromosome inactivation across human tissues
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- Analysis of protein-coding genetic variation in 60,706 humans
- Quantifying prion disease penetrance using large population control cohorts
- Effect of predicted protein-truncating genetic variants on the human transcriptome
- Guidelines for investigating causality of sequence variants in human disease.