Exome sequencing (ES) and genome sequencing (GS) have radically transformed the
diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation …

Single locus (Mendelian) diseases are a leading cause of childhood hospitalization,
intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome …

Despite large sequencing and data sharing efforts, previously characterized pathogenic
variants only account for a fraction of Mendelian disease patients, which highlights the need …

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 …

Given the limited therapeutic options for most rare diseases diagnosed through genomic
sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is …

Genetic testing has undergone a revolution in the last decade, particularly with the advent of
next-generation sequencing and its associated reductions in costs and increases in …

The precise regulation of DNA replication is vital for cellular division and genomic integrity.
Central to this process is the replication factor C (RFC) complex, encompassing five …

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

Background Clinical exome sequencing typically achieves diagnostic yields of 30%–57.5%
in individuals with monogenic rare diseases. Undiagnosed diseases programmes …

Although genomic research offering next‐generation sequencing (NGS) has increased the
diagnoses of rare/ultra‐rare disorders, populations experiencing health disparities …