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Murdoch Childrens Research Institute

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.

Illumina plans to upgrade all its NIPT customers to version 2 of its VeriSeq solution over the next year.

Quick, Quick

The Sydney Morning Herald reports on an Australian effort to provide quick genomic testing to ill infants.

The researchers suggested that the regions they found should be included in diagnostic assays for unexplained cases of disorders of sex development.

A new analysis says sequencing early in in the diagnostic process for infants with suspected Mendelian disorders is cost-effective.

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.

Nature News reports on the US National Science Foundation's investigations of undisclosed foreign ties among researchers it funds.

Researchers have developed a set of 10 principles to guide how a list of all species on earth should be put together, the Guardian reports.

Wired reports on a new firm developing a gene writing approach for therapeutic genome changes.

In Nature this week: a method called cis-X combines whole-genome and transcriptome sequencing data to identify regulatory noncoding variants, and more.