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 …

Starting with the launch of the Human Genome Project three decades ago, and continuing
after its completion in 2003, genomics has progressively come to have a central and …

Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …

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 …

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 …

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

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 …

Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding
genome function. Approaches based on next-generation sequencing applied at scale have …

A decade after environmental scientists integrated high‐throughput sequencing
technologies in their toolbox, the genomics‐based monitoring of anthropogenic impacts on …

The second Newborn Sequencing in Genomic Medicine and Public Health study was a
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …