Murdoch Childrens Research Institute
GnomAD Consortium Details Range of Human Genetic Variation From Large Dataset
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.
Australian Government Awards A$33M in Grants for Genomics Research
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.
Human Sex Reversal Tied to Enhancer Mutations Near SOX9 Gene
The researchers suggested that the regions they found should be included in diagnostic assays for unexplained cases of disorders of sex development.
Early Sequencing in Infants With Suspected Mendelian Disorders May Save Money
A new analysis says sequencing early in in the diagnostic process for infants with suspected Mendelian disorders is cost-effective.
Feb 27, 2018