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 …

Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …

Abstract The Cancer Programme of the 100,000 Genomes Project was an initiative to
provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities …

We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …

A fundamental problem in rare-disease diagnostics is the lack of consensus as to which
genes have sufficient evidence to attribute causation. To address this issue, we have …

Precision medicine promises to transform healthcare for groups and individuals through
early disease detection, refining diagnoses and tailoring treatments. Analysis of large-scale …

Big Data will be an integral part of the next generation of technological developments—
allowing us to gain new insights from the vast quantities of data being produced by modern …

Personalized medicine has largely been enabled by the integration of genomic and other
data with electronic health records (EHRs) in the United States and elsewhere. Increased …

Purpose With growing evidence that rare single gene disorders present in the neonatal
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …

Purpose In a large cohort of molecularly characterized inherited retinal disease (IRD)
families, we investigated proportions with disease attributable to causative variants in each …