The interpretation of genomic variants has become one of the paramount challenges in the
post-genome sequencing era. In this review we summarize nearly 20 years of research on …

Next-generation sequencing has catapulted healthcare into a revolutionary genomics era.
One such technology, whole-exome sequencing, which targets the protein-coding regions of …

Precision medicine strives for highly individualized treatments for disease under the notion
that each individual's unique genetic makeup and environmental exposures imprints upon …

Neurodevelopmental and psychiatric disorders are a highly disabling and heterogeneous
group of developmental and mental disorders, resulting from complex interactions of genetic …

Up to half of all patients do not respond to pharmacological treatment as intended. A
substantial fraction of these inter-individual differences is due to heritable factors and a …

Effective splice site selection is critically controlled by flanking splicing regulatory elements
(SREs) that can enhance or repress splice site use. Although several computational …

Exome analysis of patients with a likely monogenic disease does not identify a causal
variant in over half of cases. Splice-disrupting mutations make up the second largest class of …

It is now widely accepted that aberrant splicing of constitutive exons is often caused by
mutations affecting cis-acting splicing regulatory elements (SREs), but there is a …

Cystic fibrosis (CF) is caused by~ 300 pathogenic CFTR variants. The heterogeneity of
which, challenges molecular diagnosis and precision medicine approaches in CF. Our …

Recent technological advances in sequencing have flooded the field of cancer research with
knowledge about somatic mutations for many different cancer types. Most cancer genomics …