Somatic mutations (also known as acquired mutations) are emerging as common, age-
related processes that occur in all cells throughout the body. Somatic mutations are …

The rapid and accurate diagnosis of rare diseases is paramount in directing clinical
management. In recent years, the integration of multi-omics approaches has emerged as a …

Purpose Over 30 research groups and companies are exploring newborn screening using
genomic sequencing (NBSeq), but the sensitivity of this approach is not well understood …

Background Identifying causative variants is crucial for the diagnosis of rare genetic
diseases. Over the past two decades, the application of genome sequencing technologies in …

Clinical short-read exome and genome sequencing approaches have positively impacted
diagnostic testing for rare diseases. Yet, technical limitations associated with short reads …

The rapid development of therapies for severe and rare genetic conditions underlines the
need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A …

Although more than 140 genes have been associated with non-syndromic hereditary
hearing loss (HL), at least half of the cases remain unexplained in medical genetic testing …

Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface
expression of a pre-T cell receptor (TCR) complex, composed of TCRβ chain and pre-TCRα …

Background Recent studies have reported that expanded GCA repeats in the GLS gene can
cause glutaminase deficiency with ataxia phenotype. However, to data, no studies have …

Rare developmental disorder caused by variants in a small RNA gene Skip to main content
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