There are few better examples of the need for data sharing than in the rare disease
community, where patients, physicians, and researchers must search for “the needle in a …

In well over half of the individuals with rare disease who undergo clinical or research next‐
generation sequencing, the responsible gene cannot be determined. Some reasons for this …

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 …

The discovery of disease‐causing mutations typically requires confirmation of the variant or
gene in multiple unrelated individuals, and a large number of rare genetic diseases remain …

In the last decade, exome and/or genome sequencing has become a common test in the
diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this …

Next‐generation sequencing has led to an unparalleled pace of Mendelian disease gene
discovery in recent years. To address the challenges of analysis and sharing of large …

Here, we describe an overview and update on GeneMatcher (http://www. genematcher. org),
a freely accessible Web‐based tool developed as part of the Baylor‐Hopkins Center for …

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 …

Early data-sharing efforts have led to improved variant interpretation and development of
treatments for rare diseases and some cancer types (–). However, such benefits will only be …

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 …