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 …

DNA sequencing has revolutionized medicine over recent decades. However, analysis of
large structural variation and repetitive DNA, a hallmark of human genomes, has been …

The impact of genetic variation on overall disease burden has not been comprehensively
evaluated. We introduce an approach to estimate the effect of genetic risk factors on …

The challenges imposed by climate change and the limited nature of resources generate
paradigm shifts at the level of economic, social, and environmental policies and strategies …

Background The diagnosis of rare genetic diseases is often challenging due to the
complexity of the genetic underpinnings of these conditions and the limited availability of …

For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management,
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a …

Long-read DNA sequencing technologies have been rapidly evolving in recent years, and
their ability to assess large and complex regions of the genome makes them ideal for clinical …

The rapid adoption of digital health technologies generates a vast amount of health data,
presenting an opportunity to leverage advanced data analytics and cognitive computing to …

MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial
ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the …

The impact of next-generation sequencing (NGS) cannot be overestimated. The technology
has transformed the field of life science, contributing to a dramatic expansion in our …