This perspective summarizes early experiences from genomic newborn screening studies, totaling over 10,800 infants from the US, Belgium, and Australia. While these provide data on technical feasibilit...

Talos, a new tool for the automated analysis of genomic data, demonstrates the feasibility and diagnostic utility of systematic reanalyses of data in rare diseases.

The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...

Play virtual ESHG 2026 BINGO with your friends for free on any device. Customize the bingo cards and generate printable or virtual bingo cards for free.

Professor Zornitza Stark shares her experiences of open science practices and impact that open data sharing has on patients and their families.

European Journal of Human Genetics - Mainstreaming genomic testing for mitochondrial disease in Australia

Clear professional competencies and career pathways in variant interpretation (VI) are lacking. We co-developed learning outcomes in VI and describe how these can inform education and competencies acr...

Genomic newborn screening (gNBS) can screen for a broad range of genetic conditions, potentially enabling early treatment and improving health outcomes. However, it remains outside publicly funded pr...

Nine in 10 Australian researchers had their “ideas grant” applications rejected last year, even as Australia’s medical investment fund sits on $5 billion more than it was designed to hold.

Academic publishing now shows the same decline that has hit social media and online marketplaces.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder with a phenotypic spectrum of mild to severe developmental delay, feeding difficulties, short stature, microcephaly, and recurre...

Assessing the value of genomics is key to informing evidence-based policies; this Review outlines how current approaches to health technology assessment, implementation and data management can be adapted to suit the rapidly evolving technology and evidence base.

Assessing the value of genomics is key to informing evidence-based policies; this Review outlines how current approaches to health technology assessment, implementation and data management can be adap...

Assessing the value of genomics is key to informing evidence-based policies; this Review outlines how current approaches to health technology assessment, implementation and data management can be adap...

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…

The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of…

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