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 …

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Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …

Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Central nervous system tumours represent one of the most lethal cancer types, particularly
among children. Primary treatment includes neurosurgical resection of the tumour, in which …

The world has witnessed a steady rise in both non-infectious and infectious chronic
diseases, prompting a cross-disciplinary approach to understand and treating disease …

Technological advances have made it possible to study a patient from multiple angles with
high-dimensional, high-throughput multiscale biomedical data. In oncology, massive …

Every so often, a confluence of novel technologies emerges that radically transforms every
aspect of the industry, the global economy, and finally, the way we live. These sharp leaps of …

The year 2022 will be remembered as the turning point for accurate long-read sequencing,
which now establishes the gold standard for speed and accuracy at competitive costs. We …

Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …