Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

Alternative splicing (AS) is a complex coordinated transcriptional regulatory mechanism. It
affects nearly 95% of all protein-coding genes and occurs in nearly all human organs …

Epithelial barriers have to constantly cope with both harmless and harmful stimuli. The
epithelial barrier therefore serves as a dynamic and not static wall to safeguard its proper …

Hundreds of heritable traits and diseases that are caused by germline aberrations in
ubiquitously expressed genes manifest in a remarkably limited number of cell types and …

Alternative splicing of pre-mRNA is a key mechanism for increasing the complexity of
proteins in humans, causing a diversity of expression of transcriptomes and proteomes in a …

Long-read RNA sequencing (RNA-seq) technologies can sequence full-length transcripts,
facilitating the exploration of isoform-specific gene expression over short-read RNA-seq. We …

Highlights•RNA-seq is emerging as a powerful technology to study alternative splicing.•RNA
mis-splicing can cause cancers and a variety of other human diseases.•To target alternative …

Fluid protein biomarkers are important tools in clinical research and health care to support
diagnosis and to monitor patients. Especially within the field of dementia, novel biomarkers …

In countries around the world, sleep deprivation represents a widespread problem affecting
school‐age children, teenagers, and adults. Acute sleep deprivation and more chronic sleep …

Proteins are the primary functional actors of the cell. While proteoform diversity is known to
be highly biologically relevant, current protein analysis methods are of limited use for …