The collection of more than 125,000 exomes and 15,000 genomes has enabled an analysis of loss-of-function variants, may help diagnose rare disease, and guide drug development.
The grants were awarded as part of Australia's Genomics Health Futures Mission, which was launched in 2018 as part of a broader health research initiative.
Victorian Clinical Genetics Services is one of two partners in Acute Care Genomics, which is testing DNA from critically ill infants and kids across Australia.
The institute is seeking a bioinformatics chief who will oversee MCRI's transformation of the unit from a core service facility to an independent research center focused initially on analysis of high-throughput or second-generation sequencing data.
Researchers from the Murdoch Childrens Research Institute in Parkville, Australia, investigated the feasibility of replacing "time-consuming, locus-specific testing for specific microdeletion and microduplication syndromes with microarray analysis." Study co-author Howard Slater spoke with BioArray News about the paper.
In Nature this week: a method called cis-X combines whole-genome and transcriptome sequencing data to identify regulatory noncoding variants, and more.
