Background: The diagnosis of rare genetic diseases is often challenging due to the
complexity of the genetic underpinnings of these conditions and the limited availability of …

Background The diagnosis of rare genetic diseases is often challenging due to the
complexity of the genetic underpinnings of these conditions and the limited availability of …

Background The diagnosis of rare genetic diseases is often challenging due to the
complexity of the genetic underpinnings of these conditions and the limited availability of …

DNA sequencing has allowed for the discovery of the genetic cause for a considerable
number of diseases, paving the way for new disease diagnostics. However, due to the lack …

Until now, rare disease studies have mainly been carried out by detecting simple variants
such as single nucleotide substitutions and short insertions and deletions in protein-coding …

Rare diseases affect more than 300 million people worldwide. Diagnosing rare diseases is a
major challenge as they have different causes and etiologies. Careful assessment of clinical …

Rare diseases are medical conditions that affect a small number of people compared to the
general population. There are more than 10,000 estimated rare diseases with 80% being …

Rare genetic disorders are hereditary conditions brought on by changes or mutations in a
person's DNA. A few people are affected by these illnesses, often inherited from parents with …

Rare diseases are life-threatening or chronically debilitating conditions affecting millions of
people worldwide. In many instances, the patients experience a delay in their diagnosis or …

Background Patients with rare diseases face unique challenges in obtaining a diagnosis,
appropriate medical care and access to support services. Whole genome and exome …