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 …

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults
with rare genetic diseases shortens their" diagnostic odyssey," improves disease …

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 …

Purpose: The pace of Mendelian gene discovery is slowed by the “n-of-1 problem”—the
difficulty of establishing the causality of a putatively pathogenic variant in a single person or …

Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological
problems. In most cases, it results from a loss‐of‐function mutation in the gene encoding …

Purpose Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically
heterogeneous neurodevelopmental disorders. We sought to delineate the clinical …

Abstract Background and Aims Very early onset inflammatory bowel disease [VEOIBD] is
characterized by intestinal inflammation affecting infants and children less than 6 years of …

The clinical utility of computational phenotyping for both genetic and rare diseases is
increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the …

Compound heterozygous (CH) variants occur when two recessive alleles are inherited and
the variants are located at different loci within the same gene in a given individual. CH …

Background With the expanding use of next-gen sequencing (NGS) to diagnose the
thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual …