The outbreak of COVID-19 has positively impacted the NGS market recently. Targeted
sequencing (TS) has become an important routine technique in both clinical and research …

The transition from analog to digital technologies in clinical laboratory genomics is ushering
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and
translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase …

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked
to neurological deficits, our understanding of the underlying molecular and cellular …

Background As the use of AI becomes more pervasive, and computerised systems are used
in clinical decision-making, the role of trust in, and the trustworthiness of, AI tools will need to …

Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

Individuals with ultrarare disorders pose a structural challenge for healthcare systems since
expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3 …

Abstract Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting
80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the …

The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four
different isozymes, encoded by four different genes—CAMK2A, CAMK2B, CAMK2G, and …