Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

The past decade has witnessed a rapid evolution in rare disease (RD) research, fueled by
the availability of genome-wide (exome and genome) sequencing. In 2011, as this …

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 …

Exome and genome sequencing have become the tools of choice for rare disease
diagnosis, leading to large amounts of data available for analyses. To identify causal …

Abstract The Matchmaker Exchange (MME) was launched in 2015 to provide a robust
mechanism to discover novel disease‐gene relationships. It operates as a federated …

Background Thousands of genes have been associated with different Mendelian conditions.
One of the valuable sources to track these gene-disease associations (GDAs) is the Online …

A major challenge in validating genetic causes for patients with rare diseases (RDs) is the
difficulty in identifying other RD patients with overlapping phenotypes and variants in the …

Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the
significant number of individuals with suspected but undiagnosed rare genetic diseases …

Since the first novel gene discovery for a Mendelian condition was made via exome
sequencing, the rapid increase in the number of genes known to underlie Mendelian …

We examined the utility of clinical and research processes in the reanalysis of publicly‐
funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …