Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

Five years on from our award-winning review on Nextgeneration sequencing and emerging
technologies, 1 a rapid pace of fundamental advances has markedly altered the landscape …

Hundreds of millions of single cells have been analyzed to date using high throughput
transcriptomic methods, thanks to technological advances driving the increasingly rapid …

RNA sequencing (RNA-seq) enables the accurate measurement of multiple transcriptomic
phenotypes for modeling the impacts of disease variants. Advances in technologies …

Background: Episodic ataxias are rare neurological disorders characterized by recurring
episodes of imbalance and coordination difficulties. Obtaining definitive molecular …

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases |
Nature Medicine Skip to main content Thank you for visiting nature.com. You are using a …

Rapid genomic testing recommendations Rapid genomic testing in critically ill children is
becoming the standard of care where there is a high suspicion of an underlying genetic …

Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to
the diverse mechanisms by which genetic variants cause disease. To address this, we …

Rare diseases are recognized as a global public health priority. A timely and accurate
diagnosis is a critical enabler for precise and personalized health care. However, barriers to …

Background Rare oncogenic driver events, particularly affecting the expression or splicing of
driver genes, are suspected to substantially contribute to the large heterogeneity of …